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Dr Nicholas Timpson

Dr Nicholas Timpson

Dr Nicholas Timpson
BA(Oxon), MSc(Oxon), PhD(Bristol), PGCHE

Reader in Genetic Epidemiology

Office Room OS16
Oakfield House,
Oakfield Grove, Clifton BS8 2BN
(See a map)

+44 (0) 117 3310131



Following an undergraduate degree in Human Sciences, a masters degree in Biological Anthropology and as a molecular genetics lab researcher at the University of Oxford, Nic’s PhD work in Bristol on Mendelian randomization represented an important fusion between applied epidemiology and human genetics. It was of the first to formally use of this approach and also provided important scientific evidence relating to the metabolic implications of chronically elevated C reactive protein.
As a seconded researcher at the Wellcome Trust Centre for Human Genetics, Nic became involved in the first wave of genomewide association studies (GWAS) through the Wellcome Trust Case Control Consortium (type 2 diabetes (T2D) analysis team) and the initiation of a collection of collaborative consortia which continue to operate today. One stand out discovery from this work was that of the association between variation at the fat mass and obesity related locus (FTO) and body mass index (BMI)/adiposity.
Currently as a Reader in Genetic Epidemiology back in Bristol, whilst leading an MRC programme of research within the Integrated Epidemiology Unit at the University of Bristol, he is co-chair of the cohorts group UK10K population based whole genome sequencing initiative. The Wellcome Trust funded UK10K study has already collected and is in the process of analysing whole genome, next generation sequence data on large population based collections within the UK. He is also jointly responsible for Cancer Research UK funded work package employing Mendelian randomisation approaches to dissect the causal role of modifiable risk factors in cancer and leads the Population Health Research Theme at the University of Bristol.

Activities / Findings

Following undergraduate studies in Oxford, I started research for a PhD at the Department of Social Medicine, University of Bristol, in 2003. Here I was part of the development of Mendelian randomisation, using genetic variants as instrumental variables to investigate the causal role of C-reactive protein in cardiometabolic risk.

In December 2006 I was seconded to The Wellcome Trust Centre for Human Genetics, Oxford, where I worked with teams led by Profs Cardon and McCarthy. I worked as part of the Wellcome Trust Case Control Consortium’s type 2 team and on the first confirmed common gene variant associated with adiposity.

In 2007/8 I began a Lectureship in genetic epidemiology at the MRC Centre for Causal Analyses in Translational Epidemiology, University of Bristol. This has matured into a full university supported Readership awarded in the summer of 2013.

My current research concerns the contribution of genetic factors to common, complex traits including the development and use of novel analytical approaches for assessing causality. I lead a programme of research for the undertaking of genotype based recall experiments within the MRC Integrated Epidemiology Unit and am co-chair of the cohorts group of the UK10K population based whole genome sequencing initiative. 

I'm currently responsible for the Population Health Research Theme.


I teach a broad range of topics related to population health and genetics to both undergraduate and postgraduate students and use a variety of teaching methods for delivery and assessment. I have teach clinical epidemiology to first year medical undergraduates and unit lead for Community Orientated Medical Practice (COMP1 - with a focus on evidence based medicine and public health) for fourth year medical undergraduates. 



School of Social and Community Medicine

Other sites

Centres, collaborations and units

Recent publications

  • Wade, KH, Forouhi, NG, Cook, DG, Johnson, P, McConnachie, A, Morris, RW, Rodriguez, S, Ye, Z, Ebrahim, S, Padmanabhan, S, Watt, G, Bruckdorfer, KR, Wareham, NJ, Whincup, PH, Chanock, S, Sattar, N, Lawlor, DA, Smith, GD & Timpson, NJ 2015, ‘Variation in the SLC23A1 gene does not influence cardiometabolic outcomes to the extent expected given its association with L-ascorbic acid’. The American Journal of Clinical Nutrition, vol 101., pp. 202-9
  • Stergiakouli, E, Martin, J, Hamshere, ML, Langley, K, Evans, DM, St Pourcain, B, Timpson, NJ, Owen, MJ, O'Donovan, M, Thapar, A & Smith, GD 2015, ‘Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) traits in children and clinical ADHD’. Journal of the American Academy of Child and Adolescent Psychiatry, vol 54., pp. 322-7
  • Valk, RJPvd, Kreiner-Møller, E, Kooijman, MN, Guxens, M, Stergiakouli, E, Sääf, A, Bradfield, JP, Geller, F, Hayes, MG, Cousminer, DL, Körner, A, Thiering, E, Curtin, JA, Myhre, R, Huikari, V, Joro, R, Kerkhof, M, Warrington, NM, Pitkänen, N, Ntalla, I, Horikoshi, M, Veijola, R, Freathy, RM, Teo, Y-Y, Barton, SJ, Evans, DM, Kemp, JP, St Pourcain, B, Ring, SM, Smith, GD, Bergström, A, Kull, I, Hakonarson, H, Mentch, FD, Bisgaard, H, Chawes, B, Stokholm, J, Waage, J, Eriksen, P, Sevelsted, A, Melbye, M, van Duijn, CM, Medina-Gomez, C, Hofman, A, Jongste, JCd, Taal, HR, Uitterlinden, AG, Armstrong, LL, Eriksson, J, Palotie, A, Bustamante, M, Estivill, X, Gonzalez, JR, Llop, S, Kiess, W, Mahajan, A, Flexeder, C, Tiesler, CMT, Murray, CS, Simpson, A, Magnus, P, Sengpiel, V, Hartikainen, A-L, Keinanen-Kiukaanniemi, S, Lewin, A, Alves, ADSC, Blakemore, AI, Buxton, JL, Kaakinen, M, Rodriguez, A, Sebert, S, Vaarasmaki, M, Lakka, T, Lindi, V, Gehring, U, Postma, DS, Ang, W, Newnham, JP, Lyytikäinen, L-P, Pahkala, K, Raitakari, OT, Panoutsopoulou, K, Zeggini, E, Boomsma, DI, Groen-Blokhuis, M, Ilonen, J, Franke, L, Hirschhorn, JN, Pers, TH, Liang, L, Huang, J, Hocher, B, Knip, M, Saw, S-M, Holloway, JW, Melén, E, Grant, SFA, Feenstra, B, Lowe, WL, Widén, E, Sergeyev, E, Grallert, H, Custovic, A, Jacobsson, B, Jarvelin, M-R, Atalay, M, Koppelman, GH, Pennell, CE, Niinikoski, H, Dedoussis, GV, Mccarthy, MI, Frayling, TM, Sunyer, J, Timpson, NJ, Rivadeneira, F, Bønnelykke, K, Jaddoe, VWV & 2015, ‘A novel common variant in DCST2 is associated with length in early life and height in adulthood’. Human Molecular Genetics, vol 24., pp. 1155-1168
  • Swerdlow, DI, Preiss, D, Kuchenbaecker, KB, Holmes, MV, Engmann, JEL, Shah, T, Sofat, R, Stender, S, Johnson, PCD, Scott, RA, Leusink, M, Verweij, N, Sharp, SJ, Guo, Y, Giambartolomei, C, Chung, C, Peasey, A, Amuzu, A, Li, K, Palmen, J, Howard, P, Cooper, JA, Drenos, F, Li, YR, Lowe, G, Gallacher, J, Stewart, MCW, Tzoulaki, I, Buxbaum, SG, Van Der A, DL, Forouhi, NG, Onland-Moret, NC, Van Der Schouw, YT, Schnabel, RB, Hubacek, JA, Kubinova, R, Baceviciene, M, Tamosiunas, A, Pajak, A, Topor-Madry, R, Stepaniak, U, Malyutina, S, Baldassarre, D, Sennblad, B, Tremoli, E, De Faire, U, Veglia, F, Ford, I, Jukema, JW, Westendorp, RGJ, De Borst, GJ, De Jong, PA, Algra, A, Spiering, W, Van Der Zee, AHM, Klungel, OH, De Boer, A, Doevendans, PA, Eaton, CB, Robinson, JG, Duggan, D, Kjekshus, J, Downs, JR, Gotto, AM, Keech, AC, Marchioli, R, Tognoni, G, Sever, PS, Poulter, NR, Waters, DD, Pedersen, TR, Amarenco, P, Nakamura, H, McMurray, JJV, Lewsey, JD, Chasman, DI, Ridker, PM, Maggioni, AP, Tavazzi, L, Ray, KK, Seshasai, SRK, Manson, JE, Price, JF, Whincup, PH, Morris, RW, Lawlor, DA, Smith, GD, Ben-Shlomo, Y, Schreiner, PJ, Fornage, M, Siscovick, DS, Cushman, M, Kumari, M, Wareham, NJ, Verschuren, WMM, Redline, S, Patel, SR, Whittaker, JC, Hamsten, A, Delaney, JA, Dale, C, Gaunt, TR, Wong, A, Kuh, D, Hardy, R, Kathiresan, S, Castillo, BA, Van Der Harst, P, Brunner, EJ, Tybjaerg-Hansen, A, Marmot, MG, Krauss, RM, Tsai, M, Coresh, J, Hoogeveen, RC, Psaty, BM, Lange, LA, Hakonarson, H, Dudbridge, F, Humphries, SE, Talmud, PJ, Kivimäki, M, Timpson, NJ, Langenberg, C, Asselbergs, FW, Voevoda, M, Bobak, M, Pikhart, H, Wilson, JG, Reiner, AP, Keating, BJ, Hingorani, AD & Sattar, N 2015, ‘HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: Evidence from genetic analysis and randomised trials’. J Psychopharmacol, vol 385., pp. 351-361
  • Warrington, NM, Zhu, G, Dy, V, Heath, AC, Madden, PAF, Hemani, G, Kemp, JP, Mcmahon, G, St Pourcain, B, Timpson, NJ, Taylor, CM, Golding, J, Lawlor, DA, Steer, C, Montgomery, GW, Martin, NG, Smith, GD, Evans, DM & Whitfield, JB 2015, ‘Genome-wide association study of blood lead shows multiple associations near ALAD’. Human Molecular Genetics, vol 24., pp. 3871-9
  • , Min, JL, Timpson, NJ, Smith, GD, Evans, D, Gaunt, T, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B, Lawson, D, Day, I, Ring, S, Morris, R & Wain, LV 2015, ‘The UK10K project identifies rare variants in health and disease’. Nature, vol 526., pp. 82-90
  • Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, JL, Danecek, P, Malerba, G, Trabetti, E, Zheng, H-F, Gambaro, G, Richards, JB, Durbin, R, Timpson, NJ, Marchini, J, Soranzo, N & 2015, ‘Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel’. Nature Communications, vol 6., pp. 8111
  • Hellmich, C, Durant, C, Timpson, NJ, Bartsch, U, Corbin, LJ & Jones, M 2015, ‘Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology’. BMC Medical Genetics, vol 16., pp. 96
  • Zheng, H-F, Forgetta, V, Hsu, Y-H, Estrada, K, Rosello-Diez, A, Leo, PJ, Dahia, CL, Park-Min, KH, Tobias, JH, Kooperberg, C, Kleinman, A, Styrkarsdottir, U, Liu, C-T, Uggla, C, Evans, DS, Nielson, CM, Walter, K, Pettersson-Kymmer, U, McCarthy, S, Eriksson, J, Kwan, T, Jhamai, M, Trajanoska, K, Memari, Y, Min, J, Huang, J, Danecek, P, Wilmot, B, Li, R, Chou, W-C, Mokry, LE, Moayyeri, A, Claussnitzer, M, Cheng, C-H, Cheung, W, Medina-Gómez, C, Ge, B, Chen, S-H, Choi, K, Oei, L, Fraser, J, Kraaij, R, Hibbs, MA, Gregson, CL, Paquette, D, Hofman, A, Wibom, C, Tranah, GJ, Marshall, M, Gardiner, BB, Cremin, K, Auer, P, Hsu, L, Ring, S, Tung, JY, Thorleifsson, G, Enneman, AW, van Schoor, NM, Groot, LCPGMd, Velde, Nvd, Melin, B, Kemp, JP, Christiansen, C, Sayers, A, Zhou, Y, Calderari, S, van Rooij, J, Carlson, C, Peters, U, Berlivet, S, Dostie, J, Uitterlinden, AG, Williams, SR, Farber, C, Grinberg, D, LaCroix, AZ, Haessler, J, Chasman, DI, Giulianini, F, Rose, LM, Ridker, PM, Eisman, JA, Nguyen, TV, Center, JR, Nogues, X, Garcia-Giralt, N, Launer, LL, Gudnason, V, Mellström, D, Vandenput, L, Amin, N, van Duijn, CM, Karlsson, MK, Ljunggren, &#x, Sv;ensson, O, Hallmans, G, Rousseau, F, Giroux, S, Bussière, J, Arp, PP, Koromani, F, Prince, RL, Lewis, JR, Langdahl, BL, Hermann, AP, Jensen, J-E, Kaptoge, S, Khaw, K-T, Reeve, J, Formosa, MM, Xuereb-Anastasi, A, Åkesson, K, McGuigan, FE, Garg, G, Olmos, JM, Zarrabeitia, MT, Riancho, JA, Ralston, SH, Alonso, N, Jiang, X, Goltzman, D, Pastinen, T, Grundberg, E, Gauguier, D, Orwoll, ES, Karasik, D, Davey-Smith, G, Smith, AV, Siggeirsdottir, K, Harris, TB, Zillikens, MC, van Meurs, JBJ, Thorsteinsdottir, U, Maurano, MT, Timpson, NJ, Soranzo, N, Durbin, R, Wilson, SG, Ntzani, EE, Brown, MA, Stefansson, K, Hinds, DA, Spector, T, Cupples, LA, Ohlsson, C, Greenwood, CMT, Jackson, RD, Rowe, DW, Loomis, CA, Evans, DM, Ackert-Bicknell, CL, Joyner, AL, Duncan, EL, Kiel, DP, Rivadeneira, F, Richards, JB & 2015, ‘Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture’. Nature Reviews. Neuroscience, vol 526., pp. 112-7
  • King, D, Jones, W, Crow, Y, Dominiczak, A, Foster, N, Gaunt, TR, Harris, J, Hellens, S, Homfray, T, Innes, J, Jones, E, Joss, S, Kulkarni, A, Mansour, S, Morris, A, Parker, M, Porteous, D, Shihab, HA, Smith, B, Tatton-Brown, K, Tolmie, J, Trzaskowski, M, Vasudevan, P, Wakeling, E, Wright, M, Plomin, R, Timpson, NJ & Hurles, M 2015, ‘Mosaic structural variation in children with developmental disorders’. Hum Mol Genet, vol 24., pp. 2733?2745

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