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University of Exeter Medical School

Dr Katherine Ruth

Dr Katherine Ruth

Research Fellow, Genetics of Complex Traits


 +44 (0) 1392 728326

 RILD Building Level 3


University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK


I am a Research Fellow working on the genetics of female reproductive ageing in humans in the Genetics of Complex Traits Group (, working with Dr Anna Murray. I conduct genome-wide analyses and meta-analyses in traits relating to reproductive ageing by conducting statistical analysis of genetic data on many thousands of women. I am currently contributing to ReproGen consortium projects (, including genome-wide meta-analysis of age of menopause. I completed my PhD on “Genetic and Non-Genetic Factors Contributing to Female Reproductive Ageing” in January 2016, which was supervised by Dr Anna Murray, Dr John Perry (Cambridge) and Prof. Tim Frayling. Prior to joining the group as a PhD student in 2012, I worked on analysis of NHS cancer and health data for six years at the South West Public Health Observatory.


PhD. “Identification of Genetic and Non-Genetic Factors Contributing to Female Reproductive Ageing”. University of Exeter. January 2016.

Diploma in Statistics. Open University, 2009.

Certificate of Continuing Education in Statistics. Birkbeck College, University of London, 2003.

MBiochem. Molecular and Cellular Biochemistry. Oxford University, 2000.


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Journal articles

Bailey S, Green H, Merriel S, Oram R, Thirlwell C, Ruth K, Tyrrell J, Weedon M (In Press). Applying a genetic risk score for prostate cancer to men with lower urinary tract symptoms in primary care to predict prostate cancer diagnosis: a cohort study in the UK Biobank. British Journal of Cancer
Wright C, Tuke M, Frayling T, Weedon M, Murray A, Tyrrell J, Ruth K, Beaumont R, Wood A (In Press). Large copy number variants in UK Biobank caused by clonal haematopoiesis may confound penetrance estimates. American Journal of Human Genetics
Weedon M, Jackson L, Harrison J, Ruth K, Tyrrell J, Hattersley A, Wright C (In Press). Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation. BMJ: British Medical Journal
Harlow CE, Patel VV, Waterworth DM, Wood AR, Beaumont RN, Ruth KS, Tyrrell J, Oguro-Ando A, Chu AY, Frayling TM, et al (2023). Genetically proxied therapeutic prolyl-hydroxylase inhibition and cardiovascular risk. Hum Mol Genet, 32(3), 496-505. Abstract.  Author URL.
Jackson L, Weedon MN, Green HD, Mallabar-Rimmer B, Harrison JW, Wood AR, Ruth KS, Tyrrell J, Wright CF (2023). Influence of family history on penetrance of hereditary cancers in a population setting. eClinicalMedicine, 64, 102159-102159.
Ruth KS, Beaumont RN, Locke JM, Tyrrell J, Crandall CJ, Hawkes G, Frayling TM, Prague JK, Patel KA, Wood AR, et al (2023). Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records. BMC Med Genomics, 16(1). Abstract.  Author URL.
Steventon JJ, Lancaster TM, Baker ES, Bracher-Smith M, Escott-Price V, Ruth KS, Davies W, Caseras X, Murphy K (2023). Menopause age, reproductive span and hormone therapy duration predict the volume of medial temporal lobe brain structures in postmenopausal women. Psychoneuroendocrinology, 158 Abstract.  Author URL.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, et al (2023). Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med, 29(7), 1692-1699. Abstract.  Author URL.
Green HD, Merriel SWD, Oram RA, Ruth KS, Tyrrell J, Jones SE, Thirlwell C, Weedon MN, Bailey SER (2023). Response to: Genetic risk scores may compound rather than solve the issue of prostate cancer overdiagnosis (BJC-LT3342090). Br J Cancer, 128(4), 487-488. Author URL.
Zhao Y, Gardner EJ, Tuke MA, Zhang H, Pietzner M, Koprulu M, Jia RY, Ruth KS, Wood AR, Beaumont RN, et al (2022). Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. Genet Med, 24(9), 1909-1919. Abstract.  Author URL.
Hayes BL, Robinson T, Kar S, Ruth KS, Tsilidis KK, Frayling T, Murray A, Martin RM, Lawlor DA, Richmond RC, et al (2022). Do sex hormones confound or mediate the effect of chronotype on breast and prostate cancer? a Mendelian randomization study. PLoS Genet, 18(1). Abstract.  Author URL.
Hazelwood E, Sanderson E, Tan VY, Ruth KS, Frayling TM, Dimou N, Gunter MJ, Dossus L, Newton C, Ryan N, et al (2022). Identifying molecular mediators of the relationship between body mass index and endometrial cancer risk: a Mendelian randomization analysis. BMC Medicine, 20(1). Abstract.
Shekari S, Stankovic S, Ruth KS, Prague J, Perry J, Murray A (2022). O-147 Genomic analyses in 101,127 UK women show that previously reported monogenic genes are not common causes of premature ovarian insufficiency. Human Reproduction, 37(Supplement_1).
van der Laan CM, Morosoli-García JJ, van de Weijer SGA, Colodro-Conde L, Ip HF, van der Laan CM, Krapohl EML, Brikell I, Sánchez-Mora C, Nolte IM, et al (2021). Continuity of Genetic Risk for Aggressive Behavior Across the Life-Course. Behavior Genetics, 51(5), 592-606. Abstract.
Ip HF, van der Laan CM, Krapohl EML, Brikell I, Sánchez-Mora C, Nolte IM, St Pourcain B, Bolhuis K, Palviainen T, Zafarmand H, et al (2021). Genetic association study of childhood aggression across raters, instruments, and age. Transl Psychiatry, 11(1). Abstract.  Author URL.
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, et al (2021). Genetic insights into biological mechanisms governing human ovarian ageing. Nature, 596(7872), 393-397. Abstract.  Author URL.
RUTH KS, DAY F, TYRRELL J, MURRAY A, ONG K, FRAYLING T, PERRY J (2020). 1907-P: Using Human Genetics to Test the Disease Consequences of Varying Testosterone Levels in Men and Women. Diabetes, 69(Supplement_1).
Ruth KS, Day FR, Tyrrell J, Thompson DJ, Wood AR, Mahajan A, Beaumont RN, Wittemans L, Martin S, Busch AS, et al (2020). Using human genetics to understand the disease impacts of testosterone in men and women. Nature Medicine, 26(2), 252-258.
Bovijn J, Jackson L, Censin J, Chen C-Y, Laisk T, Laber S, Ferreira T, Pulit SL, Glastonbury CA, Smoller JW, et al (2019). GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology. Am J Hum Genet, 104(1), 157-163. Abstract.  Author URL.
Ji Y, Yiorkas AM, Frau F, Mook-Kanamori D, Staiger H, Thomas EL, Atabaki-Pasdar N, Campbell A, Tyrrell J, Jones SE, et al (2019). Genome-Wide and Abdominal MRI Data Provide Evidence That a Genetically Determined Favorable Adiposity Phenotype is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease, and Hypertension. Diabetes, 68(1), 207-219. Abstract.  Author URL.
Ruth KS, Soares ALG, Borges M-C, Eliassen AH, Hankinson SE, Jones ME, Kraft P, Nichols HB, Sandler DP, Schoemaker MJ, et al (2019). Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan. Hum Mol Genet, 28(8), 1392-1401. Abstract.  Author URL.
Warrington NM, Beaumont RN, Horikoshi M, Day FR, Helgeland Ø, Laurin C, Bacelis J, Peng S, Hao K, Feenstra B, et al (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nat Genet, 51(5), 804-814. Abstract.  Author URL.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, et al (2019). Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med, 21(4), 877-886. Abstract.  Author URL.
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, et al (2019). Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet, 51(3), 452-469. Abstract.  Author URL.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, et al (2019). Response to Prakash et al. Genet Med, 21(8), 1884-1885. Author URL.
Tyrrell J, Mulugeta A, Wood AR, Zhou A, Beaumont RN, Tuke MA, Jones SE, Ruth KS, Yaghootkar H, Sharp S, et al (2019). Using genetics to understand the causal influence of higher BMI on depression. Int J Epidemiol, 48(3), 834-848. Abstract.  Author URL.
Frayling TM, Beaumont RN, Jones SE, Yaghootkar H, Tuke MA, Ruth KS, Casanova F, West B, Locke J, Sharp S, et al (2018). A Common Allele in FGF21 Associated with Sugar Intake is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure. Cell Rep, 23(2), 327-336. Abstract.  Author URL.
Trajanoska K, Morris JA, Oei L, Zheng H-F, Evans DM, Kiel DP, Ohlsson C, Richards JB, Rivadeneira F, GEFOS/GENOMOS consortium and the 23andMe research team, et al (2018). Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study. BMJ, 362 Abstract.  Author URL.
Beaumont RN, Warrington NM, Cavadino A, Tyrrell J, Nodzenski M, Horikoshi M, Geller F, Myhre R, Richmond RC, Paternoster L, et al (2018). Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Hum Mol Genet, 27(4), 742-756. Abstract.  Author URL.
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, et al (2018). Protein-Coding Variants Implicate Novel Genes Related to Lipid Homeostasis Contributing to Body Fat Distribution.  Abstract.
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, et al (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet, 50(1), 26-41. Abstract.  Author URL.
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, et al (2017). CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun, 8(1). Abstract.  Author URL.
Tyrrell J, Wood AR, Ames RM, Yaghootkar H, Beaumont RN, Jones SE, Tuke MA, Ruth KS, Freathy RM, Davey Smith G, et al (2017). Gene-obesogenic environment interactions in the UK Biobank study. Int J Epidemiol, 46(2), 559-575. Abstract.  Author URL.
Day FR, Thompson DJ, Helgason H, Chasman DI, Finucane H, Sulem P, Ruth KS, Whalen S, Sarkar AK, Albrecht E, et al (2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet, 49(6), 834-841. Abstract.  Author URL.
Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, et al (2017). Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nat Commun, 8 Abstract.  Author URL.
Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, Wood AR, Campbell A, Tyrrell J, Hocking LJ, et al (2017). Quantifying the extent to which index event biases influence large genetic association studies. Hum Mol Genet, 26(5), 1018-1030. Abstract.  Author URL.
Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, et al (2017). Rare and low-frequency coding variants alter human adult height. Nature, 542(7640), 186-190. 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.
Ruth KS, Perry JRB, Henley WE, Melzer D, Weedon MN, Murray A (2016). Events in Early Life are Associated with Female Reproductive Ageing: a UK Biobank Study. Sci Rep, 6 Abstract.  Author URL.
Yaghootkar H, Lotta LA, Tyrrell J, Smit RAJ, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (2016). Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. Diabetes, 65(8), 2448-2460. Abstract.  Author URL.
Ruth KS, Beaumont RN, Tyrrell J, Jones SE, Tuke MA, Yaghootkar H, Wood AR, Freathy RM, Weedon MN, Frayling TM, et al (2016). Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health. Hum Reprod, 31(2), 473-481. Abstract.  Author URL.
Jones SE, Tyrrell J, Wood AR, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Hu Y, Teder-Laving M, Hayward C, et al (2016). Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. PLoS Genet, 12(8). Abstract.  Author URL.
Ruth KS, Campbell PJ, Chew S, Lim EM, Hadlow N, Stuckey BGA, Brown SJ, Feenstra B, Joseph J, Surdulescu GL, et al (2016). Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. Eur J Hum Genet, 24(2), 284-290. Abstract.  Author URL.
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, et al (2016). Genome-wide associations for birth weight and correlations with adult disease. Nature, 538(7624), 248-252. Abstract.  Author URL.
Tyrrell J, Jones SE, Beaumont R, Astley CM, Lovell R, Yaghootkar H, Tuke M, Ruth KS, Freathy RM, Hirschhorn JN, et al (2016). Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. BMJ, 352 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.
Ruth KS, Bennett CE, Schoemaker MJ, Weedon MN, Swerdlow AJ, Murray A (2016). Length of FMR1 repeat alleles within the normal range does not substantially affect the risk of early menopause. Hum Reprod, 31(10), 2396-2403. Abstract.  Author URL.
Ruth KS, Murray A (2016). Lessons from Genome-Wide Association Studies in Reproductive Medicine: Menopause. Semin Reprod Med, 34(4), 215-223. Abstract.  Author URL.
Wood AR, Tyrrell J, Beaumont R, Jones SE, Tuke MA, Ruth KS, GIANT consortium, Yaghootkar H, Freathy RM, Murray A, et al (2016). Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively. Diabetologia, 59(6), 1214-1221. Abstract.  Author URL.
Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, et al (2015). Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet, 47(11), 1294-1303. Abstract.  Author URL.
Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY, Hinds DA, Esko T, Elks CE, Altmaier E, He C, et al (2015). Rare coding variants and X-linked loci associated with age at menarche. Nat Commun, 6 Abstract.  Author URL.


Murray A, Ruth KS (2023). Integrative Omics for Women’s Health. In  (Ed) A Life Course Approach to Women's Health, Oxford University Press (OUP), 221-c13p108.


Ruth KS, Day FR, Murray A, Perry JRB (2022). Causal inference analyses reveal population risks and benefits of extending female reproductive lifespan through manipulation of biological processes.  Author URL.
Shekari S, Stankovic S, Ruth KS, Prague J, Perry J, Murray A (2022). Genomic analyses in 101,127 UK women show that previously reported monogenic genes are not common causes of premature ovarian insufficiency.  Author URL.
Verdiesen RMG, van der Schouw YT, van Gils CH, Verschuren WMM, Broekmans FJM, Borges MC, Soares ALG, Lawlor DA, Eliassen AH, Sandler DP, et al (2020). Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Mullerian hormone levels in women.  Author URL.
Tyrrell J, Mulugeta A, Wood A, Zhou A, Beaumont R, Tuke M, Jones S, Ruth K, Yaghootkar H, Lewis C, et al (2019). DOES HIGH BMI IN THE ABSENCE OF METABOLIC CONSEQUENCES CAUSE DEPRESSION?.  Author URL.
Ruth KS, Beaumont RN, Tyrrell J, Wood AR, Jones SE, Weedon MN, Frayling TM, Murray A (2019). Genetic signals for use of hormone replacement therapy in post-menopausal women suggest potential drug targets and reflect changes in health practice.  Author URL.
Beaumont RN, Warrington NM, Horikoshi M, Day FR, Ong KK, McCarthy MI, Perry JRB, Freathy RM, Evans DM (2018). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic disease.  Author URL.
Yaghootkar H, Lotta L, Tyrrell J, Smit R, Jones S, Donnelly L, Beaumont R, Campbell A, Tuke M, Hayward C, et al (2016). Genetic Evidence for a Link between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease.  Author URL.
Jones SE, Tyrrell J, Wood AR, Beaumont R, Ruth K, Tuke M, Yaghootkar H, Teder-Laving M, Hayward C, Roenneberg T, et al (2016). Genetic Studies of Sleep and Morningness and Their Relationship with Obesity and Type 2 Diabetes.  Author URL.

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Contributes to teaching for MSc Genomic Medicine and BSc Medical Sciences.

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