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Dr Luke C. Pilling

Dr Luke C. Pilling

Senior Research Fellow in Genetic Epidemiology

 01392 72 6808

 College House 1.09

 

College House, University of Exeter, St Luke's Campus, Heavitree Road, Exeter, EX1 2LU, UK

Overview

Luke is a research scientist in the Epidemiology and Public Health group at the University of Exeter. His research interests are broadly around understanding why some people are more susceptible than others for risk of age-related diseases. This includes pharmacogenetics, specific biological mechanisms (e.g., iron), and causes of multimorbidity.

Luke uses bioinformatic and statistical genetics techniques in large cohort data, especially the exceptional UK Biobank study that links genetics and medical records for up to 500,000 adults.

See the "Research" tab for details on current and past projects.

Qualifications

  • 2015 PhD in Genomic Epidemiology (PCMD/UEMS)
  • 2010 MSc Medical Informatics (Exeter)
  • 2009 BSc Biological Sciences (Exeter)

Career

  • 2022-            Senior Research Fellow in Genomic Epidemiology, UEMS
  • 2015-2022     Post-doctoral researcher in Genomic Epidemiology, UEMS

Links

Research group links

Research

Research interests

Haemochromatosis

People with haemochromatosis absorb too much iron from their diet, which builds up in the body, damaging organs and causing disease. We investigated the most common haemochromatosis mutation and found that, despite the test being available, people are diagnosed too late. 1 in 156 people of northern European descent carry two copies of the mutation (called p.C282Y in gene HFE): we found that 1 in 5 of these males and 1 in 10 females aged 40 to 70 developed additional disease, compared to those without mutations (published in the BMJ in Jan 2019). In a second study we focussed on older people and found people with two copies of the mutation suffer from frailty and chronic pain, and had lower muscle strength (published in JGMS). These symptoms are often mistaken for "normal" ageing, and thus diagnosis is often missed. The condition is easily treated by removing blood, and blood tests for iron and genetic testing are simple and cost-effective. Therefore the research suggests that routine screening may be needed for people at risk of haemochromatosis.

Press release: https://www.exeter.ac.uk/news/featurednews/title_700061_en.html

Multimorbidity: the GEMINI project

GEMINI: Genetic Evaluation of Multimorbidity towards INdividualisation of Interventions, https://sites.exeter.ac.uk/gemini/

The aim of our research is to uncover new links between long term conditions that could lead to improved interventions including drug treatments or other more focused treatments. These new links could include a better understanding of which cells in the body are most critical to the presence of two conditions in the same patient. The project uses genetic information to study the links between long term conditions, and Luke is integrating genetic and medical record information from UK Biobank (and published GWAS) with core team members Beth Voller, Ninon Mounier (https://medicine.exeter.ac.uk/people/profile/index.php?web_id=Ninon_Mounier), Tim Frayling (PI, https://medicine.exeter.ac.uk/people/profile/index.php?web_id=tim_frayling), and Jack Bowden (https://medicine.exeter.ac.uk/people/profile/index.php?web_id=Jack_Bowden).

Pharmacogenetics in cardiovascular prevention

Inherited genetic variants can modify the effectiveness of medications, contribution to inter-individual variability and susceptibility to side-effects. Luke has led several studies into key medications commonly prescribed to prevent cardiovascular disease, for example Clopidogrel is prescribed to reduce risk of embolism, yet over 25% of the UK population carry a genetic variant in gene CYP2C19 that reduces effectives and increases stroke risk by 50% (see our paper https://doi.org/10.1136/bmjopen-2021-053905)

Luke co-supervises PhD student Deniz Türkmen (https://medicine.exeter.ac.uk/people/profile/index.php?web_id=Deniz_Turkmen) who has led key studies into:

  • Statins, prescribed to lower cholesterol, where we found that genetic variant SLCO1B1*5 reduced likelihood of meeting cholesterol targets, especially in women (https://doi.org/10.1111/bcp.15245)
  • Calcium channel blockers, prescribed to reduce blood pressure. We found that incidence of side-effects such as Heart Failure were impacted by common variants; we estimated that HF incidence in CCB patients could be reduced by 9% if carriers of an RYR3 genetic variant could experience the same treatment effect as non-carriers (https://doi.org/10.1111/bcp.15541)

A methodological advancement in pharmacogenetic studies was made by collaborating with statistician Prof Jack Bowden on the TWIST (Triangulation within a Study) framework, published in PLoS Genetics (https://doi.org/10.1371/journal.pgen.1009783). Luke published the method as an open-source R package on GitHub for others to use (https://github.com/lukepilling/twistR).

Longevity, frailty, and sarcopenia

The release of genotype data in nearly 500,000 UK Biobank participants has transformed the field of genetic epidemiology. In combination with the extensive phenotyping and medical records linkage of the participants, the genetics provides unprecendented opportunities to understand mechanisms of disease and ageing, and causal evidence for biomarkers. We are utilizing this resource to identify specific sections of the genome that affect health and ultimately lifespan.

Mechanisms of disease: utilizing gene expression data

Using data from the InCHIANTI population study of ageing I have been looking into differential gene expression patterns in peripheral blood leukocytes that are associated with ageing and its pathologies. Using individual phenotype information such as cognitive performance, frailty, various metabolic and anatomic traits, and genome-wide expression data we can statistically assess differences in gene expression profiles between individuals with different characteristics, adjusted for potential confounding factors. In doing so we hope to reveal underlying cellular mechanisms linked to age-related diseases and phenotypes.

International collaborations with other large human cohorts, including the Framingham Heart Study and Rotterdam Study (as well as the CHARGE consortium), are becoming a major part of these analyses, increasing the robustness of our findings and strengthening ties with fellow researches in this fast-moving field.

Research networks

CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology)

BSRA (British Society for Research on Ageing)

Publications

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Kuo C-L, Pilling LC, Atkins JL, Kuchel GA, Melzer D (In Press). <i>ApoE</i> e2 and aging-related outcomes in 379,000 UK Biobank participants.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (In Press). <i>ApoE</i> e4e4 genotype and mortality with COVID-19 in UK Biobank.  Abstract.
Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC, et al (In Press). A Genome-Wide Association Study of the Frailty Index Highlights Synaptic Pathways in Aging.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (In Press). ApoE e4 Genotype Predicts Severe COVID-19 in the UK Biobank Community Cohort.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Tignanelli C, Kuchel GA, Melzer D, Beckman KB, Levine ME, et al (In Press). COVID-19 severity is predicted by earlier evidence of accelerated aging.  Abstract.
Kuo C-L, Pilling LC, Liu Z, Atkins JL, Levine ME (In Press). Genetic associations for two biological age measures point to distinct aging phenotypes.  Abstract.
Pilling LC, Türkmen D, Fullalove H, Atkins JL, Delgado J, Kuo C-L, Kuchel GA, Ferrucci L, Bowden J, Masoli JAH, et al (In Press). Genetic variation in activating clopidogrel: longer-term outcomes in a large community cohort.  Abstract.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong T, Hong S, Biggs ML, et al (In Press). Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.  Abstract.
Melzer D, Atkins JL, Pilling LC, Heales CJ, Savage S, Kuo C-L, Kuchel GA, Steffens DC (In Press). Hemochromatosis mutations, dementia and brain iron deposition: a prospective cohort study.  Abstract.
Atkins J (In Press). Hereditary hemochromatosis variant associations with incident non-liver malignancies: 11-year follow-up in UK Biobank. Cancer Epidemiology, Biomarkers and Prevention
Atkins J, Masoli J, Correa-Delgado J, Pilling L, Kuo C-L, Melzer D, Kuchel G (In Press). PREEXISTING COMORBIDITIES PREDICTING COVID-19 AND MORTALITY IN THE UK BIOBANK COMMUNITY COHORT. Journal of Gerontology Series A: Biological Sciences and Medical Sciences
Atkins JL, Masoli JAH, Delgado J, Pilling LC, Kuo C-L, Kuchel GA, Melzer D (In Press). Preexisting Comorbidities Predicting Severe Covid-19 in Older Adults in the UK Biobank Community Cohort.  Abstract.
Türkmen D, Masoli JAH, Kuo C-L, Bowden J, Melzer D, Pilling LC (In Press). Statin treatment effectiveness and the <i>SLCO1B1</i>*5 reduced function genotype: long-term outcomes in women and men.  Abstract.
Bowden J, Pilling LC, Türkmen D, Kuo C-L, Melzer D (In Press). The Triangulation WIthin a STudy (TWIST) framework for causal inference within Pharmacogenetic research.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Fortinsky RH, Kuchel GA, Melzer D (2022). APOE e4 Genotypes Increase Risk of Delirium During COVID-19-Related Hospitalizations: Evidence from a Large UK Cohort. J Gerontol a Biol Sci Med Sci, 77(4), 879-880. Author URL.
Pilling LC, Atkins JL, Melzer D (2022). Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: Associations in a large community cohort. Hepatology, 76(6), 1735-1745. Abstract.  Author URL.
Gautvik KM, Olstad OK, Raue U, Gautvik VT, Kvernevik KJ, Utheim TP, Ravnum S, Kirkegaard C, Wiig H, Jones G, et al (2022). Heavy-load exercise in older adults activates vasculogenesis and has a stronger impact on muscle gene expression than in young adults. EUROPEAN REVIEW OF AGING AND PHYSICAL ACTIVITY, 19(1). Author URL.
Türkmen D, Masoli JAH, Kuo C, Bowden J, Melzer D, Pilling LC (2022). Statin treatment effectiveness and the. <i>SLCO1B1</i>. 5 reduced function genotype: Long‐term outcomes in women and men. British Journal of Clinical Pharmacology, 88(7), 3230-3240.
Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC, et al (2021). A genome-wide association study of the frailty index highlights brain pathways in ageing. Aging Cell, 20(9). Abstract.  Author URL.
Pilling LC, Turkmen D, Fullalove H, Atkins JL, Delgado J, Kuo C-L, Kuchel GA, Ferrucci L, Bowden J, Masoli JAH, et al (2021). Analysis of CYP2C19 genetic variants with ischaemic events in UK patients prescribed clopidogrel in primary care: a retrospective cohort study. BMJ OPEN, 11(12). Author URL.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Tignanelli C, Kuchel GA, Melzer D, Beckman KB, Levine ME, et al (2021). Biological Aging Predicts Vulnerability to COVID-19 Severity in UK Biobank Participants. The Journals of Gerontology: Series A, 76(8), e133-e141. Abstract.
Kuo C-L, Pilling LC, Liu Z, Atkins JL, Levine ME (2021). Genetic associations for two biological age measures point to distinct aging phenotypes. Aging Cell, 20(6). Abstract.  Author URL.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong T, Hong S, Biggs ML, et al (2021). Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nature Communications, 12(1). Abstract.
Atkins JL, Pilling LC, Heales CJ, Savage S, Kuo C-L, Kuchel GA, Steffens DC, Melzer D (2021). Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort. Journal of Alzheimer's Disease, 79(3), 1203-1211. Abstract.
Bowden J, Pilling LC, Türkmen D, Kuo C-L, Melzer D (2021). The Triangulation WIthin a STudy (TWIST) framework for causal inference within pharmacogenetic research. PLOS Genetics, 17(9), e1009783-e1009783. Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (2020). APOE e4 Genotype Predicts Severe COVID-19 in the UK Biobank Community Cohort. J Gerontol a Biol Sci Med Sci, 75(11), 2231-2232. Author URL.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (2020). ApoE e4e4 Genotype and Mortality with COVID-19 in UK Biobank. The Journals of Gerontology: Series A, 75(9), 1801-1803.
Atkins JL, Pilling LC, Masoli JAH, Kuo C-L, Shearman JD, Adams PC, Melzer D (2020). Association of Hemochromatosis <i>HFE</i> p.C282Y Homozygosity with Hepatic Malignancy. JAMA, 324(20), 2048-2048.
Colicino E, Marioni R, Ward-Caviness C, Gondalia R, Guan W, Chen B, Tsai P-C, Huan T, Xu G, Golareh A, et al (2020). Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individuals. Aging (Albany NY), 12(14), 14092-14124. Abstract.  Author URL.
Masoli JAH, Delgado J, Pilling L, Strain D, Melzer D (2020). Blood pressure in frail older adults: associations with cardiovascular outcomes and all-cause mortality. Age Ageing, 49(5), 807-813. Abstract.  Author URL.
Pilling LC, Jones LC, Masoli JAH, Delgado J, Atkins JL, Bowden J, Fortinsky RH, Kuchel GA, Melzer D (2020). Low Vitamin D Levels and Risk of Incident Delirium in 351,000 Older. <scp>UK</scp>. Biobank Participants. Journal of the American Geriatrics Society, 69(2), 365-372.
Jones G, Pilling LC, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2020). Sarcopenia and Variation in the Human Leukocyte Antigen Complex. J Gerontol a Biol Sci Med Sci, 75(2), 301-308. Abstract.  Author URL.
Kuo C-L, Joaquim M, Kuchel GA, Ferrucci L, Harries LW, Pilling LC, Melzer D (2020). The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects. J Gerontol a Biol Sci Med Sci, 75(9), 1656-1662. Abstract.  Author URL.
Tian Q, Pilling LC, Atkins JL, Melzer D, Ferrucci L (2020). The relationship of parental longevity with the aging brain—results from UK Biobank. GeroScience, 42(5), 1377-1385. Abstract.
Haque S, Ames RM, Moore K, Pilling LC, Peters LL, Bandinelli S, Ferrucci L, Harries LW (2020). circRNAs expressed in human peripheral blood are associated with human aging phenotypes, cellular senescence and mouse lifespan. Geroscience, 42(1), 183-199. Abstract.  Author URL.
Agha G, Mendelson MM, Ward-Caviness CK, Joehanes R, Huan T, Gondalia R, Salfati E, Brody JA, Fiorito G, Bressler J, et al (2019). Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation, 140(8), 645-657. Abstract.  Author URL.
Pilling L, Tamosauskaite J, Jones G, Wood A, Jones L, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2019). Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ
Tamosauskaite J, Atkins J, Pilling L, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2019). Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. Journals of Gerontology - Series a Biological Sciences and Medical Sciences
Kuo C-L, Pilling LC, Kuchel GA, Ferrucci L, Melzer D (2019). Telomere length and aging-related outcomes in humans: a Mendelian randomization study in 261,000 older participants. Aging Cell, 18(6). Abstract.  Author URL.
Melzer D, Pilling LC, Ferrucci L (2019). The genetics of human ageing. Nature Reviews Genetics, 21(2), 88-101.
Lee BP, Pilling LC, Bandinelli S, Ferrucci L, Melzer D, Harries LW (2019). The transcript expression levels of HNRNPM, HNRNPA0 and AKAP17A splicing factors may be predictively associated with ageing phenotypes in human peripheral blood. Biogerontology, 20(5), 649-663. Abstract.  Author URL.
Bowman K, Jones L, Pilling LC, Delgado J, Kuchel GA, Ferrucci L, Fortinsky RH, Melzer D (2019). Vitamin D levels and risk of delirium: a mendelian randomization study in the UK Biobank. Neurology
Pilling LC, Masoli J, Melzer D, Kuchel G (2018). Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers. Translational Stroke Research
Atkins JL, Delgado J, Pilling L, Bowman K, Masoli J, Kuchel G, Ferrucci L, Melzer D (2018). Impact of Low Cardiovascular Risk Profiles on Geriatric Outcomes: Evidence from 421,000 Participants in Two Cohorts. Journals of Gerontology: Medical Sciences
Pilling LC, Atkins JL, Kuchel GA, Ferrucci L, Melzer D (2018). Red cell distribution width and common disease onsets in 240,477 healthy volunteers followed for up to 9 years. PLoS ONE, 13(9). Abstract.
Latorre E, Pilling LC, Lee BP, Bandinelli S, Melzer D, Ferrucci L, Harries LW (2018). The VEGFA156b isoform is dysregulated in senescent endothelial cells and may be associated with prevalent and incident coronary heart disease. Clin Sci (Lond), 132(3), 313-325. Abstract.  Author URL.
Tanaka T, Dutta A, Pilling LC, Xue L, Lunetta KL, Murabito JM, Bandinelli S, Wallace R, Melzer D, Ferrucci L, et al (2017). Genome-wide Association Study of Parental Life Span. J Gerontol a Biol Sci Med Sci, 72(10), 1407-1410. Abstract.  Author URL.
Pilling LC, Kuo C-L, Sicinski K, Tamosauskaite J, Kuchel GA, Harries LW, Herd P, Wallace R, Ferrucci L, Melzer D, et al (2017). Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Aging (Albany NY), 9(12), 2504-2520. Abstract.  Author URL.
Pilling LC, Atkins JL, Duff MO, Beaumont RN, Jones SE, Tyrrell J, Kuo C-L, Ruth KS, Tuke MA, Yaghootkar H, et al (2017). Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. PLoS One, 12(9). Abstract.  Author URL.
Huan T, Joehanes R, Schurmann C, Schramm K, Pilling LC, Peters MJ, Mägi R, DeMeo D, O'Connor GT, Ferrucci L, et al (2016). A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. Human Molecular Genetics, 25(21), 4611-4623. Abstract.
Huan T, Joehanes R, Schurmann C, Schramm K, Pilling LC, Peters MJ, Mägi R, DeMeo D, O'Connor GT, Ferrucci L, et al (2016). A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. Hum Mol Genet, 25(21), 4611-4623. Abstract.  Author URL.
Moore AZ, Hernandez DG, Tanaka T, Pilling LC, Nalls MA, Bandinelli S, Singleton AB, Ferrucci L (2016). Change in Epigenome-Wide DNA Methylation over 9 Years and Subsequent Mortality: Results from the InCHIANTI Study. J Gerontol a Biol Sci Med Sci, 71(8), 1029-1035. Abstract.  Author URL.
Lee BP, Pilling LC, Emond F, Flurkey K, Harrison DE, Yuan R, Peters LL, Kuchel GA, Ferrucci L, Melzer D, et al (2016). Changes in the expression of splicing factor transcripts and variations in alternative splicing are associated with lifespan in mice and humans. Aging Cell, 15(5), 903-913. Abstract.  Author URL.
Ligthart S, Marzi C, Aslibekyan S, Mendelson MM, Conneely KN, Tanaka T, Colicino E, Waite LL, Joehanes R, Guan W, et al (2016). DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biol, 17(1). Abstract.  Author URL.
Chen BH, Marioni RE, Colicino E, Peters MJ, Ward-Caviness CK, Tsai P-C, Roetker NS, Just AC, Demerath EW, Guan W, et al (2016). DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging (Albany NY), 8(9), 1844-1865. Abstract.  Author URL.
Joehanes R, Just AC, Marioni RE, Pilling LC, Reynolds LM, Mandaviya PR, Guan W, Xu T, Elks CE, Aslibekyan S, et al (2016). Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet, 9(5), 436-447. Abstract.  Author URL.
Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, Davies G, Trompet S, Smith JA, Wolf C, et al (2016). GWAS for executive function and processing speed suggests involvement of the CADM2 gene. Mol Psychiatry, 21(2), 189-197. Abstract.  Author URL.
Pilling LC, Joehanes R, Kacprowski T, Peters M, Jansen R, Karasik D, Kiel DP, Harries LW, Teumer A, Powell J, et al (2016). Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons. Physiol Genomics, 48(1), 1-11. Abstract.  Author URL.
Pilling LC, Atkins JL, Bowman K, Jones SE, Tyrrell J, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Wood AR, et al (2016). Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. Aging (Albany NY), 8(3), 547-560. Abstract.  Author URL.
Atkins JL, Pilling LC, Ble A, Dutta A, Harries LW, Murray A, Brayne C, Robine J-M, Kuchel GA, Ferrucci L, et al (2016). Longer-Lived Parents and Cardiovascular Outcomes: 8-Year Follow-Up in 186,000 U.K. Biobank Participants. J Am Coll Cardiol, 68(8), 874-875. Author URL.
Chen BH, Hivert M-F, Peters MJ, Pilling LC, Hogan JD, Pham LM, Harries LW, Fox CS, Bandinelli S, Dehghan A, et al (2016). Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. Diabetes, 65(12), 3794-3804. Abstract.  Author URL.
Demirkan A, Lahti J, Direk N, Viktorin A, Lunetta KL, Terracciano A, Nalls MA, Tanaka T, Hek K, Fornage M, et al (2016). Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies. Psychol Med, 46(8), 1613-1623. Abstract.  Author URL.
Huan T, Esko T, Peters MJ, Pilling LC, Schramm K, Schurmann C, Chen BH, Liu C, Joehanes R, Johnson AD, et al (2015). A meta-analysis of gene expression signatures of blood pressure and hypertension. PLoS Genet, 11(3). Abstract.  Author URL.
Blackwell J, Harries LW, Pilling LC, Ferrucci L, Jones A, Melzer D (2015). Changes in CEBPB expression in circulating leukocytes following eccentric elbow-flexion exercise. Journal of Physiological Sciences, 65(1), 145-150. Abstract.
Blackwell J, Harries LW, Pilling LC, Ferrucci L, Jones A, Melzer D (2015). Changes in CEBPB expression in circulating leukocytes following eccentric elbow-flexion exercise. J Physiol Sci, 65(1), 145-150. Abstract.  Author URL.
Holly AC, Grellscheid S, van de Walle P, Dolan D, Pilling LC, Daniels DJ, von Zglinicki T, Ferrucci L, Melzer D, Harries LW, et al (2015). Comparison of senescence-associated miRNAs in primary skin and lung fibroblasts. Biogerontology, 16(4), 423-434. Abstract.  Author URL.
Pfeiffer L, Wahl S, Pilling LC, Reischl E, Sandling JK, Kunze S, Holdt LM, Kretschmer A, Schramm K, Adamski J, et al (2015). DNA methylation of lipid-related genes affects blood lipid levels. Circ Cardiovasc Genet, 8(2), 334-342. Abstract.  Author URL.
Pilling LC, Joehanes R, Melzer D, Harries LW, Henley W, Dupuis J, Lin H, Mitchell M, Hernandez D, Ying S-X, et al (2015). Gene expression markers of age-related inflammation in two human cohorts. Exp Gerontol, 70, 37-45. Abstract.  Author URL.
Galloway TS, Fletcher T, Thomas OJ, Lee BP, Pilling LC, Harries LW (2015). PFOA and PFOS are associated with reduced expression of the parathyroid hormone 2 receptor (PTH2R) gene in women. Chemosphere, 120, 555-562. Abstract.  Author URL.
Peters MJ, Joehanes R, Pilling LC, Schurmann C, Conneely KN, Powell J, Reinmaa E, Sutphin GL, Zhernakova A, Schramm K, et al (2015). The transcriptional landscape of age in human peripheral blood. Nat Commun, 6 Abstract.  Author URL.
Winiarski BK, Cope N, Alexander M, Pilling LC, Warren S, Acheson N, Gutowski NJ, Whatmore JL (2014). Clinical Relevance of Increased Endothelial and Mesothelial Expression of Proangiogenic Proteases and VEGFA in the Omentum of Patients with Metastatic Ovarian High-Grade Serous Carcinoma. Transl Oncol, 7(2), 267-276.e4. Abstract.  Author URL.
Holly AC, Pilling LC, Hernandez D, Lee BP, Singleton A, Ferrucci L, Melzer D, Harries LW (2014). Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans. Mech Ageing Dev, 135, 50-56. Abstract.  Author URL.
Lin H, Joehanes R, Pilling LC, Dupuis J, Lunetta KL, Ying S-X, Benjamin EJ, Hernandez D, Singleton A, Melzer D, et al (2014). Whole blood gene expression and interleukin-6 levels. Genomics, 104(6 Pt B), 490-495. Abstract.  Author URL.
Hek K, Demirkan A, Lahti J, Terracciano A, Teumer A, Cornelis MC, Amin N, Bakshis E, Baumert J, Ding J, et al (2013). A genome-wide association study of depressive symptoms. Biol Psychiatry, 73(7), 667-678. Abstract.  Author URL.
Harries LW, Pilling LC, Lampron A, Rivest S, Melzer D (2013). Alzheimer’s pathology: should peripheral monocytes and CCR2 take center stage?. Neurodegenerative Disease Management, 3(1), 9-12.
Fletcher T, Galloway TS, Melzer D, Holcroft P, Cipelli R, Pilling LC, Mondal D, Luster M, Harries LW (2013). Associations between PFOA, PFOS and changes in the expression of genes involved in cholesterol metabolism in humans. Environ Int, 57-58, 2-10. Abstract.  Author URL.
Holly AC, Melzer D, Pilling LC, Fellows AC, Tanaka T, Ferrucci L, Harries LW (2013). Changes in splicing factor expression are associated with advancing age in man. Mech Ageing Dev, 134(9), 356-366. Abstract.  Author URL.
Melzer D, Pilling LC, Fellows AD, Holly AC, Harries LW, Ferrucci L (2013). Gene Expression Biomarkers and Longevity. Annual Review of Gerontology and Geriatrics, 33(1), 233-258.
Holly AC, Melzer D, Pilling LC, Henley W, Hernandez DG, Singleton AB, Bandinelli S, Guralnik JM, Ferrucci L, Harries LW, et al (2013). Towards a gene expression biomarker set for human biological age. Aging Cell, 12(2), 324-326. Abstract.
Dutta A, Henley W, Pilling LC, Wallace RB, Melzer D (2013). Uric acid measurement improves prediction of cardiovascular mortality in later life. J Am Geriatr Soc, 61(3), 319-326. Abstract.  Author URL.
Harries LW, Fellows AD, Pilling LC, Hernandez D, Singleton A, Bandinelli S, Guralnik J, Powell J, Ferrucci L, Melzer D, et al (2012). Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mech Ageing Dev, 133(8), 556-562. Abstract.  Author URL.
Fellows AD, Holly AC, Pilling LC, Melzer D, Harries LW (2012). Age related changes in mTOR-related gene expression in two primary human cell lines. Healthy Aging Research
Harries LW, Pilling LC, Hernandez LDG, Bradley-Smith R, Henley W, Singleton AB, Guralnik JM, Bandinelli S, Ferrucci L, Melzer D, et al (2012). CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength. Aging Cell, 11(2), 262-268. Abstract.  Author URL.
Pilling LC, Harries LW, Powell J, Llewellyn DJ, Ferrucci L, Melzer D (2012). Genomics and successful aging: grounds for renewed optimism?. J Gerontol a Biol Sci Med Sci, 67(5), 511-519. Abstract.  Author URL.
Harries LW, Bradley-Smith RM, Llewellyn DJ, Pilling LC, Fellows A, Henley W, Hernandez D, Guralnik JM, Bandinelli S, Singleton A, et al (2012). Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Res, 15(4), 395-404. Abstract.  Author URL.
Melzer D, Harries L, Pilling L, Bandinelli S, Guralnik JM, Singleton A, Hernandez D, Ferrucci L (2011). CONFIRMATION OF MOUSE MODEL OF SARCOPENIA BY GENOME WIDE EXPRESSION STUDY IN HUMANS. GERONTOLOGIST, 51, 506-507. Author URL.

Publications by year


In Press

Kuo C-L, Pilling LC, Atkins JL, Kuchel GA, Melzer D (In Press). <i>ApoE</i> e2 and aging-related outcomes in 379,000 UK Biobank participants.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (In Press). <i>ApoE</i> e4e4 genotype and mortality with COVID-19 in UK Biobank.  Abstract.
Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC, et al (In Press). A Genome-Wide Association Study of the Frailty Index Highlights Synaptic Pathways in Aging.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (In Press). ApoE e4 Genotype Predicts Severe COVID-19 in the UK Biobank Community Cohort.  Abstract.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Tignanelli C, Kuchel GA, Melzer D, Beckman KB, Levine ME, et al (In Press). COVID-19 severity is predicted by earlier evidence of accelerated aging.  Abstract.
Kuo C-L, Pilling LC, Liu Z, Atkins JL, Levine ME (In Press). Genetic associations for two biological age measures point to distinct aging phenotypes.  Abstract.
Pilling LC, Türkmen D, Fullalove H, Atkins JL, Delgado J, Kuo C-L, Kuchel GA, Ferrucci L, Bowden J, Masoli JAH, et al (In Press). Genetic variation in activating clopidogrel: longer-term outcomes in a large community cohort.  Abstract.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong T, Hong S, Biggs ML, et al (In Press). Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.  Abstract.
Melzer D, Atkins JL, Pilling LC, Heales CJ, Savage S, Kuo C-L, Kuchel GA, Steffens DC (In Press). Hemochromatosis mutations, dementia and brain iron deposition: a prospective cohort study.  Abstract.
Atkins J (In Press). Hereditary hemochromatosis variant associations with incident non-liver malignancies: 11-year follow-up in UK Biobank. Cancer Epidemiology, Biomarkers and Prevention
Atkins J, Masoli J, Correa-Delgado J, Pilling L, Kuo C-L, Melzer D, Kuchel G (In Press). PREEXISTING COMORBIDITIES PREDICTING COVID-19 AND MORTALITY IN THE UK BIOBANK COMMUNITY COHORT. Journal of Gerontology Series A: Biological Sciences and Medical Sciences
Atkins JL, Masoli JAH, Delgado J, Pilling LC, Kuo C-L, Kuchel GA, Melzer D (In Press). Preexisting Comorbidities Predicting Severe Covid-19 in Older Adults in the UK Biobank Community Cohort.  Abstract.
Türkmen D, Masoli JAH, Kuo C-L, Bowden J, Melzer D, Pilling LC (In Press). Statin treatment effectiveness and the <i>SLCO1B1</i>*5 reduced function genotype: long-term outcomes in women and men.  Abstract.
Bowden J, Pilling LC, Türkmen D, Kuo C-L, Melzer D (In Press). The Triangulation WIthin a STudy (TWIST) framework for causal inference within Pharmacogenetic research.  Abstract.

2022

Kuo C-L, Pilling LC, Atkins JL, Fortinsky RH, Kuchel GA, Melzer D (2022). APOE e4 Genotypes Increase Risk of Delirium During COVID-19-Related Hospitalizations: Evidence from a Large UK Cohort. J Gerontol a Biol Sci Med Sci, 77(4), 879-880. Author URL.
Pilling LC, Atkins JL, Melzer D (2022). Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: Associations in a large community cohort. Hepatology, 76(6), 1735-1745. Abstract.  Author URL.
Gautvik KM, Olstad OK, Raue U, Gautvik VT, Kvernevik KJ, Utheim TP, Ravnum S, Kirkegaard C, Wiig H, Jones G, et al (2022). Heavy-load exercise in older adults activates vasculogenesis and has a stronger impact on muscle gene expression than in young adults. EUROPEAN REVIEW OF AGING AND PHYSICAL ACTIVITY, 19(1). Author URL.
Türkmen D, Masoli JAH, Kuo C, Bowden J, Melzer D, Pilling LC (2022). Statin treatment effectiveness and the. <i>SLCO1B1</i>. 5 reduced function genotype: Long‐term outcomes in women and men. British Journal of Clinical Pharmacology, 88(7), 3230-3240.

2021

Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC, et al (2021). A genome-wide association study of the frailty index highlights brain pathways in ageing. Aging Cell, 20(9). Abstract.  Author URL.
Pilling LC, Turkmen D, Fullalove H, Atkins JL, Delgado J, Kuo C-L, Kuchel GA, Ferrucci L, Bowden J, Masoli JAH, et al (2021). Analysis of CYP2C19 genetic variants with ischaemic events in UK patients prescribed clopidogrel in primary care: a retrospective cohort study. BMJ OPEN, 11(12). Author URL.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Tignanelli C, Kuchel GA, Melzer D, Beckman KB, Levine ME, et al (2021). Biological Aging Predicts Vulnerability to COVID-19 Severity in UK Biobank Participants. The Journals of Gerontology: Series A, 76(8), e133-e141. Abstract.
Kuo C-L, Pilling LC, Liu Z, Atkins JL, Levine ME (2021). Genetic associations for two biological age measures point to distinct aging phenotypes. Aging Cell, 20(6). Abstract.  Author URL.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong T, Hong S, Biggs ML, et al (2021). Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nature Communications, 12(1). Abstract.
Atkins JL, Pilling LC, Heales CJ, Savage S, Kuo C-L, Kuchel GA, Steffens DC, Melzer D (2021). Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort. Journal of Alzheimer's Disease, 79(3), 1203-1211. Abstract.
Bowden J, Pilling LC, Türkmen D, Kuo C-L, Melzer D (2021). The Triangulation WIthin a STudy (TWIST) framework for causal inference within pharmacogenetic research. PLOS Genetics, 17(9), e1009783-e1009783. Abstract.

2020

Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (2020). APOE e4 Genotype Predicts Severe COVID-19 in the UK Biobank Community Cohort. J Gerontol a Biol Sci Med Sci, 75(11), 2231-2232. Author URL.
Kuo C-L, Pilling LC, Atkins JL, Masoli JAH, Delgado J, Kuchel GA, Melzer D (2020). ApoE e4e4 Genotype and Mortality with COVID-19 in UK Biobank. The Journals of Gerontology: Series A, 75(9), 1801-1803.
Atkins JL, Pilling LC, Masoli JAH, Kuo C-L, Shearman JD, Adams PC, Melzer D (2020). Association of Hemochromatosis <i>HFE</i> p.C282Y Homozygosity with Hepatic Malignancy. JAMA, 324(20), 2048-2048.
Colicino E, Marioni R, Ward-Caviness C, Gondalia R, Guan W, Chen B, Tsai P-C, Huan T, Xu G, Golareh A, et al (2020). Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individuals. Aging (Albany NY), 12(14), 14092-14124. Abstract.  Author URL.
Masoli JAH, Delgado J, Pilling L, Strain D, Melzer D (2020). Blood pressure in frail older adults: associations with cardiovascular outcomes and all-cause mortality. Age Ageing, 49(5), 807-813. Abstract.  Author URL.
Pilling LC, Jones LC, Masoli JAH, Delgado J, Atkins JL, Bowden J, Fortinsky RH, Kuchel GA, Melzer D (2020). Low Vitamin D Levels and Risk of Incident Delirium in 351,000 Older. <scp>UK</scp>. Biobank Participants. Journal of the American Geriatrics Society, 69(2), 365-372.
Jones G, Pilling LC, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2020). Sarcopenia and Variation in the Human Leukocyte Antigen Complex. J Gerontol a Biol Sci Med Sci, 75(2), 301-308. Abstract.  Author URL.
Kuo C-L, Joaquim M, Kuchel GA, Ferrucci L, Harries LW, Pilling LC, Melzer D (2020). The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects. J Gerontol a Biol Sci Med Sci, 75(9), 1656-1662. Abstract.  Author URL.
Tian Q, Pilling LC, Atkins JL, Melzer D, Ferrucci L (2020). The relationship of parental longevity with the aging brain—results from UK Biobank. GeroScience, 42(5), 1377-1385. Abstract.
Haque S, Ames RM, Moore K, Pilling LC, Peters LL, Bandinelli S, Ferrucci L, Harries LW (2020). circRNAs expressed in human peripheral blood are associated with human aging phenotypes, cellular senescence and mouse lifespan. Geroscience, 42(1), 183-199. Abstract.  Author URL.

2019

Agha G, Mendelson MM, Ward-Caviness CK, Joehanes R, Huan T, Gondalia R, Salfati E, Brody JA, Fiorito G, Bressler J, et al (2019). Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation, 140(8), 645-657. Abstract.  Author URL.
Pilling L, Tamosauskaite J, Jones G, Wood A, Jones L, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2019). Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ
Tamosauskaite J, Atkins J, Pilling L, Kuo C-L, Kuchel G, Ferrucci L, Melzer D (2019). Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. Journals of Gerontology - Series a Biological Sciences and Medical Sciences
Kuo C-L, Pilling LC, Kuchel GA, Ferrucci L, Melzer D (2019). Telomere length and aging-related outcomes in humans: a Mendelian randomization study in 261,000 older participants. Aging Cell, 18(6). Abstract.  Author URL.
Melzer D, Pilling LC, Ferrucci L (2019). The genetics of human ageing. Nature Reviews Genetics, 21(2), 88-101.
Lee BP, Pilling LC, Bandinelli S, Ferrucci L, Melzer D, Harries LW (2019). The transcript expression levels of HNRNPM, HNRNPA0 and AKAP17A splicing factors may be predictively associated with ageing phenotypes in human peripheral blood. Biogerontology, 20(5), 649-663. Abstract.  Author URL.
Bowman K, Jones L, Pilling LC, Delgado J, Kuchel GA, Ferrucci L, Fortinsky RH, Melzer D (2019). Vitamin D levels and risk of delirium: a mendelian randomization study in the UK Biobank. Neurology

2018

Pilling LC, Masoli J, Melzer D, Kuchel G (2018). Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers. Translational Stroke Research
Atkins JL, Delgado J, Pilling L, Bowman K, Masoli J, Kuchel G, Ferrucci L, Melzer D (2018). Impact of Low Cardiovascular Risk Profiles on Geriatric Outcomes: Evidence from 421,000 Participants in Two Cohorts. Journals of Gerontology: Medical Sciences
Pilling LC, Atkins JL, Kuchel GA, Ferrucci L, Melzer D (2018). Red cell distribution width and common disease onsets in 240,477 healthy volunteers followed for up to 9 years. PLoS ONE, 13(9). Abstract.
Latorre E, Pilling LC, Lee BP, Bandinelli S, Melzer D, Ferrucci L, Harries LW (2018). The VEGFA156b isoform is dysregulated in senescent endothelial cells and may be associated with prevalent and incident coronary heart disease. Clin Sci (Lond), 132(3), 313-325. Abstract.  Author URL.

2017

Tanaka T, Dutta A, Pilling LC, Xue L, Lunetta KL, Murabito JM, Bandinelli S, Wallace R, Melzer D, Ferrucci L, et al (2017). Genome-wide Association Study of Parental Life Span. J Gerontol a Biol Sci Med Sci, 72(10), 1407-1410. Abstract.  Author URL.
Pilling LC, Kuo C-L, Sicinski K, Tamosauskaite J, Kuchel GA, Harries LW, Herd P, Wallace R, Ferrucci L, Melzer D, et al (2017). Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Aging (Albany NY), 9(12), 2504-2520. Abstract.  Author URL.
Pilling LC, Atkins JL, Duff MO, Beaumont RN, Jones SE, Tyrrell J, Kuo C-L, Ruth KS, Tuke MA, Yaghootkar H, et al (2017). Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. PLoS One, 12(9). Abstract.  Author URL.

2016

Huan T, Joehanes R, Schurmann C, Schramm K, Pilling LC, Peters MJ, Mägi R, DeMeo D, O'Connor GT, Ferrucci L, et al (2016). A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. Human Molecular Genetics, 25(21), 4611-4623. Abstract.
Huan T, Joehanes R, Schurmann C, Schramm K, Pilling LC, Peters MJ, Mägi R, DeMeo D, O'Connor GT, Ferrucci L, et al (2016). A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. Hum Mol Genet, 25(21), 4611-4623. Abstract.  Author URL.
Moore AZ, Hernandez DG, Tanaka T, Pilling LC, Nalls MA, Bandinelli S, Singleton AB, Ferrucci L (2016). Change in Epigenome-Wide DNA Methylation over 9 Years and Subsequent Mortality: Results from the InCHIANTI Study. J Gerontol a Biol Sci Med Sci, 71(8), 1029-1035. Abstract.  Author URL.
Lee BP, Pilling LC, Emond F, Flurkey K, Harrison DE, Yuan R, Peters LL, Kuchel GA, Ferrucci L, Melzer D, et al (2016). Changes in the expression of splicing factor transcripts and variations in alternative splicing are associated with lifespan in mice and humans. Aging Cell, 15(5), 903-913. Abstract.  Author URL.
Ligthart S, Marzi C, Aslibekyan S, Mendelson MM, Conneely KN, Tanaka T, Colicino E, Waite LL, Joehanes R, Guan W, et al (2016). DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biol, 17(1). Abstract.  Author URL.
Chen BH, Marioni RE, Colicino E, Peters MJ, Ward-Caviness CK, Tsai P-C, Roetker NS, Just AC, Demerath EW, Guan W, et al (2016). DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging (Albany NY), 8(9), 1844-1865. Abstract.  Author URL.
Joehanes R, Just AC, Marioni RE, Pilling LC, Reynolds LM, Mandaviya PR, Guan W, Xu T, Elks CE, Aslibekyan S, et al (2016). Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet, 9(5), 436-447. Abstract.  Author URL.
Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, Davies G, Trompet S, Smith JA, Wolf C, et al (2016). GWAS for executive function and processing speed suggests involvement of the CADM2 gene. Mol Psychiatry, 21(2), 189-197. Abstract.  Author URL.
Pilling LC, Joehanes R, Kacprowski T, Peters M, Jansen R, Karasik D, Kiel DP, Harries LW, Teumer A, Powell J, et al (2016). Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons. Physiol Genomics, 48(1), 1-11. Abstract.  Author URL.
Pilling LC, Atkins JL, Bowman K, Jones SE, Tyrrell J, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Wood AR, et al (2016). Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. Aging (Albany NY), 8(3), 547-560. Abstract.  Author URL.
Atkins JL, Pilling LC, Ble A, Dutta A, Harries LW, Murray A, Brayne C, Robine J-M, Kuchel GA, Ferrucci L, et al (2016). Longer-Lived Parents and Cardiovascular Outcomes: 8-Year Follow-Up in 186,000 U.K. Biobank Participants. J Am Coll Cardiol, 68(8), 874-875. Author URL.
Chen BH, Hivert M-F, Peters MJ, Pilling LC, Hogan JD, Pham LM, Harries LW, Fox CS, Bandinelli S, Dehghan A, et al (2016). Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. Diabetes, 65(12), 3794-3804. Abstract.  Author URL.
Demirkan A, Lahti J, Direk N, Viktorin A, Lunetta KL, Terracciano A, Nalls MA, Tanaka T, Hek K, Fornage M, et al (2016). Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies. Psychol Med, 46(8), 1613-1623. Abstract.  Author URL.

2015

Huan T, Esko T, Peters MJ, Pilling LC, Schramm K, Schurmann C, Chen BH, Liu C, Joehanes R, Johnson AD, et al (2015). A meta-analysis of gene expression signatures of blood pressure and hypertension. PLoS Genet, 11(3). Abstract.  Author URL.
Blackwell J, Harries LW, Pilling LC, Ferrucci L, Jones A, Melzer D (2015). Changes in CEBPB expression in circulating leukocytes following eccentric elbow-flexion exercise. Journal of Physiological Sciences, 65(1), 145-150. Abstract.
Blackwell J, Harries LW, Pilling LC, Ferrucci L, Jones A, Melzer D (2015). Changes in CEBPB expression in circulating leukocytes following eccentric elbow-flexion exercise. J Physiol Sci, 65(1), 145-150. Abstract.  Author URL.
Holly AC, Grellscheid S, van de Walle P, Dolan D, Pilling LC, Daniels DJ, von Zglinicki T, Ferrucci L, Melzer D, Harries LW, et al (2015). Comparison of senescence-associated miRNAs in primary skin and lung fibroblasts. Biogerontology, 16(4), 423-434. Abstract.  Author URL.
Pfeiffer L, Wahl S, Pilling LC, Reischl E, Sandling JK, Kunze S, Holdt LM, Kretschmer A, Schramm K, Adamski J, et al (2015). DNA methylation of lipid-related genes affects blood lipid levels. Circ Cardiovasc Genet, 8(2), 334-342. Abstract.  Author URL.
Pilling LC, Joehanes R, Melzer D, Harries LW, Henley W, Dupuis J, Lin H, Mitchell M, Hernandez D, Ying S-X, et al (2015). Gene expression markers of age-related inflammation in two human cohorts. Exp Gerontol, 70, 37-45. Abstract.  Author URL.
Galloway TS, Fletcher T, Thomas OJ, Lee BP, Pilling LC, Harries LW (2015). PFOA and PFOS are associated with reduced expression of the parathyroid hormone 2 receptor (PTH2R) gene in women. Chemosphere, 120, 555-562. Abstract.  Author URL.
Peters MJ, Joehanes R, Pilling LC, Schurmann C, Conneely KN, Powell J, Reinmaa E, Sutphin GL, Zhernakova A, Schramm K, et al (2015). The transcriptional landscape of age in human peripheral blood. Nat Commun, 6 Abstract.  Author URL.

2014

Winiarski BK, Cope N, Alexander M, Pilling LC, Warren S, Acheson N, Gutowski NJ, Whatmore JL (2014). Clinical Relevance of Increased Endothelial and Mesothelial Expression of Proangiogenic Proteases and VEGFA in the Omentum of Patients with Metastatic Ovarian High-Grade Serous Carcinoma. Transl Oncol, 7(2), 267-276.e4. Abstract.  Author URL.
Holly AC, Pilling LC, Hernandez D, Lee BP, Singleton A, Ferrucci L, Melzer D, Harries LW (2014). Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans. Mech Ageing Dev, 135, 50-56. Abstract.  Author URL.
Lin H, Joehanes R, Pilling LC, Dupuis J, Lunetta KL, Ying S-X, Benjamin EJ, Hernandez D, Singleton A, Melzer D, et al (2014). Whole blood gene expression and interleukin-6 levels. Genomics, 104(6 Pt B), 490-495. Abstract.  Author URL.

2013

Hek K, Demirkan A, Lahti J, Terracciano A, Teumer A, Cornelis MC, Amin N, Bakshis E, Baumert J, Ding J, et al (2013). A genome-wide association study of depressive symptoms. Biol Psychiatry, 73(7), 667-678. Abstract.  Author URL.
Harries LW, Pilling LC, Lampron A, Rivest S, Melzer D (2013). Alzheimer’s pathology: should peripheral monocytes and CCR2 take center stage?. Neurodegenerative Disease Management, 3(1), 9-12.
Fletcher T, Galloway TS, Melzer D, Holcroft P, Cipelli R, Pilling LC, Mondal D, Luster M, Harries LW (2013). Associations between PFOA, PFOS and changes in the expression of genes involved in cholesterol metabolism in humans. Environ Int, 57-58, 2-10. Abstract.  Author URL.
Holly AC, Melzer D, Pilling LC, Fellows AC, Tanaka T, Ferrucci L, Harries LW (2013). Changes in splicing factor expression are associated with advancing age in man. Mech Ageing Dev, 134(9), 356-366. Abstract.  Author URL.
Melzer D, Pilling LC, Fellows AD, Holly AC, Harries LW, Ferrucci L (2013). Gene Expression Biomarkers and Longevity. Annual Review of Gerontology and Geriatrics, 33(1), 233-258.
Holly AC, Melzer D, Pilling LC, Henley W, Hernandez DG, Singleton AB, Bandinelli S, Guralnik JM, Ferrucci L, Harries LW, et al (2013). Towards a gene expression biomarker set for human biological age. Aging Cell, 12(2), 324-326. Abstract.
Dutta A, Henley W, Pilling LC, Wallace RB, Melzer D (2013). Uric acid measurement improves prediction of cardiovascular mortality in later life. J Am Geriatr Soc, 61(3), 319-326. Abstract.  Author URL.

2012

Harries LW, Fellows AD, Pilling LC, Hernandez D, Singleton A, Bandinelli S, Guralnik J, Powell J, Ferrucci L, Melzer D, et al (2012). Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mech Ageing Dev, 133(8), 556-562. Abstract.  Author URL.
Fellows AD, Holly AC, Pilling LC, Melzer D, Harries LW (2012). Age related changes in mTOR-related gene expression in two primary human cell lines. Healthy Aging Research
Harries LW, Pilling LC, Hernandez LDG, Bradley-Smith R, Henley W, Singleton AB, Guralnik JM, Bandinelli S, Ferrucci L, Melzer D, et al (2012). CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength. Aging Cell, 11(2), 262-268. Abstract.  Author URL.
Pilling LC, Harries LW, Powell J, Llewellyn DJ, Ferrucci L, Melzer D (2012). Genomics and successful aging: grounds for renewed optimism?. J Gerontol a Biol Sci Med Sci, 67(5), 511-519. Abstract.  Author URL.
Harries LW, Bradley-Smith RM, Llewellyn DJ, Pilling LC, Fellows A, Henley W, Hernandez D, Guralnik JM, Bandinelli S, Singleton A, et al (2012). Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Res, 15(4), 395-404. Abstract.  Author URL.

2011

Melzer D, Harries L, Pilling L, Bandinelli S, Guralnik JM, Singleton A, Hernandez D, Ferrucci L (2011). CONFIRMATION OF MOUSE MODEL OF SARCOPENIA BY GENOME WIDE EXPRESSION STUDY IN HUMANS. GERONTOLOGIST, 51, 506-507. Author URL.

Luke_Pilling Details from cache as at 2022-11-27 22:20:57

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Teaching

PhD supervision

Current

Deniz Türkmen (2020-2023, 2nd supervisor) is performing pharmacogenetic analysis to characterise the effect of genetic variants on clinical outcomes during periods of drug prescribing. She has led studies on:

  • Statins, prescribed to lower cholesterol, where we found that genetic variant SLCO1B1*5 reduced likelihood of meeting cholesterol targets, especially in women (https://doi.org/10.1111/bcp.15245)
  • Calcium channel blockers, prescribed to reduce blood pressure. We found that incidence of side-effects such as Heart Failure were impacted by common variants; we estimated that HF incidence in CCB patients could be reduced by 9% if carriers of an RYR3 genetic variant could experience the same treatment effect as non-carriers (https://doi.org/10.1111/bcp.15541)

Bethany Voller (2022-2025, 1st supervisor) will undertake genetic analyses in the context of multimorbidity, to understand shared causes and mechanisms.

Mitchell Lucas (2022-2025, 3rd supervisor) will undertake analyses of haemochromatosis to undertstand penetrance: why some patients experience severe disease where others do not.

Completed

Dr Garan Jones (2018-2021, 2nd supervisor) undertook analysis of UK Biobank data to better understand genetic risk factors for physical frailty. He led a large 22-cohort genome-wide meta-analysis of sarcopenia (weakness) in older people, published in Nature Communications (https://doi.org/10.1038/s41467-021-20918-w). He is now postdoctoral Reseach Fellow at the University of Exeter with Prof Chrissie Thirlwell researching cancer genomics (https://medicine.exeter.ac.uk/people/profile/index.php?web_id=Garan_Jones).

Project student supervision

Luke supervises students from the MSc Genomic Medicine programme and BSc Medical Science programme undertaking research projects with the group.

He also assists with the Research SSU teaching of UEMS medical students - the students spend 3 weeks with our group learning the principals of research in epidemiology, and applying research techniques to real data to test hypotheses. This gives the prospective medical graduates an idea of how research is conducted, and how this might eventually be translated into medical practice.

Other Teaching

Luke assists with the facilitation of small-study group sessions for the BSc Medical Science programme 2nd-year Medical Genetics module.

Supervision / Group

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