Browse/search for people

Dr Santi Rodriguez

Dr Santi Rodriguez

Dr Santi Rodriguez
BSc, MSc, PhD(Compostela)

Senior Lecturer in Population and Molecular Genetics

Area of research

Human Population and Molecular Genetics

Office Room OS1A
Oakfield House,
Oakfield Grove, Clifton BS8 2BN
(See a map)

+44 (0) 1173310133


My current research is mainly focused on the study of the influence that genetic factors have on complex risk traits for common human diseases from an evolutionary, epidemiological and functional point of view.


I obtained my degree in Biology in the University of Santiago de Compostela (USC) (Spain) in 1994. In 1995, I obtained my Mphil in the USC (Spain) working on a project combining Cytogenetics and Population Genetics.

My PhD project in the USC (Spain) (1999) was both in the characterization of patterns of gametic disequilibrium (or linkage disequilibrium, LD) between dinucleotide repeat loci spanning human chromosome 11p15, and in the development of a new methodology (now patented) for dinucleotide repeat genotyping.

In 2002, I moved to the Human Genetics Division (University of Southampton), funded in the first instance by a European Community Marie Curie Fellowship. I was involved first in the analysis of human chromosome Y in the context of complex traits. I continued working within the Human Genetics Division as a postdoctoral research fellow until October 2006, funded from a UK Medical Research Council Programme grant and from HOPE. My main work has been in statistical genetic analyses of two candidate genomic regions (the IGF2-INS-TH region and the ACE-GH cluster) in relation to metabolic and cardiovascular risk traits, but I also performed experimental laboratory work (focused on specific SNPs, microsatellites and method developments).

In 2006 I moved to the Department of Social Medicine (University of Bristol), initially as a lecturer, until 2011, when I progressed to Senior Lecturer. During this period of time, I have been involved on a wide range of projects centred on Human Genetics. These include human population genetic studies, genetic epidemiological studies and molecular genetic studies.


  • Population Genetics
  • Molecular Genetics
  • Genetic Epidemiology


  • Obesity
  • Diabetes
  • Metabolic disorders
  • Cardiovascular diseases
  • Prostate Cancer


  • Copy Number Variants genotyping
  • Quantitative PCR

Recent publications

  • Guthrie, PAI, Abdollahi, MR, Gaunt, T, Lawlor, DA, Ben-Shlomo, Y, Gallacher, J, Smith, GD, Day, INM & Rodriguez, S 2014, ‘Haptoglobin Duplicon, Hemoglobin, and Vitamin C: Analyses in the British Women's Heart and Health Study and Caerphilly Prospective Study’. Disease Markers, vol 2014., pp. 529456
  • Erzurumluoglu, M, Rodriguez, S, Gaunt, TR, Guthrie, PAI & Day, INM 2014, ‘Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia’. Human Mutation.
  • Rodriguez, S, Al-Ghamdi, OA, Burrows, K, Guthrie, PAI, Lane, JA, Davis, M, Marsden, G, Alharbi, KK, Cox, A, Hamdy, FC, Neal, DE, Donovan, JL & Day, INM 2013, ‘Very Low PSA Concentrations and Deletions of the KLK3 Gene’. Clinical Chemistry, vol 59., pp. 234-244
  • Rodriguez, S, Alghamdi, OAA, Burrows, K, Guthrie, PAI, Lane, JA, Davis, MJ, Marsden, G, Alharbi, KK, Cox, A, Hamdy, FC, David, N, Donovan, JL & Day, INM 2013, ‘Very low PSA levels and deletions of the KLK3 gene’. Clin Chem.
  • Guthrie, PAI, Rodriguez, S, Gaunt, TR, Lawlor, DA, Smith, GD & Day, INM 2012, ‘Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol’. Gene, vol 499., pp. 8-13
  • Lewis, SJ, Zuccolo, L, Smith, GD, Macleod, JAA, Rodriguez, S, Draper, ES, Barrow, M, Alati, R, Sayal, K, Ring, S, Golding, J & Gray, R 2012, ‘Fetal Alcohol Exposure and IQ at Age 8: Evidence from a Population-Based Birth-Cohort Study’. PLoS ONE, vol 7., pp. e49407
  • Rodriguez, S, Williams, DM, Guthrie, PAI, McArdle, WL, Smith, GD, Evans, DM, Gaunt, TR & Day, INM 2012, ‘Molecular and population analysis of natural selection on the human haptoglobin duplication’. Annals of Human Genetics, vol 76., pp. 352-362
  • Zabaneh, D, Gaunt, TR, Kumari, M, Drenos, F, Shah, S, Berry, D, Power, C, Hypponen, E, Shah, T, Palmen, J, Pallas, J, Talmud, PJ, Casas, JP, Sofat, R, Lowe, G, Rumley, A, Morris, RW, Whincup, PH, Rodriguez, S, Ebrahim, S, Marmot, MG, Smith, GD, Lawlor, DA, Kivimaki, M, Whittaker, J, Hingorani, AD, Day, IN & Humphries, SE 2011, ‘Genetic variants associated with von Willebrand factor levels in healthy men and women identified using the HumanCVD BeadChip’. Annals of Human Genetics, vol 75., pp. 456 - 467
  • Lanktree, MB, Guo, Y, Murtaza, M, Glessner, JT, Bailey, SD, Onland-Moret, NC, Lettre, G, Ongen, H, Rajagopalan, R, Johnson, T, Shen, H, Nelson, CP, Klopp, N, Baumert, J, Padmanabhan, S, Pankratz, N, Pankow, JS, Shah, S, Taylor, K, Barnard, J, Peters, BJ, Maloney, CM, Lobmeyer, MT, Stanton, A, Zafarmand, MH, Romaine, SPR, Mehta, A, Iperen, EPAv, Gong, Y, Price, TS, Smith, EN, Kim, CE, Li, YR, Asselbergs, FW, Atwood, LD, Bailey, KM, Bhatt, D, Bauer, F, Behr, ER, Bhangale, T, Boer, JMA, Boehm, BO, Bradfield, JP, Brown, M, Braund, PS, Burton, PR, Carty, C, Chandrupatla, HR, Chen, W, Connell, J, Dalgeorgou, C, Boer, Ad, Drenos, F, Elbers, CC, Fang, JC, Fox, CS, Frackelton, EC, Fuchs, B, Furlong, CE, Gibson, Q, Gieger, C, Goel, A, Grobbee, DE, Hastie, C, Howard, PJ, Huang, G-H, Johnson, WC, Li, Q, Kleber, ME, Klein, BEK, Klein, R, Kooperberg, C, Ky, B, Lacroix, A, Lanken, P, Lathrop, M, Li, M, Marshall, V, Melander, O, Mentch, FD, Meyer, NJ, Monda, KL, Montpetit, A, Murugesan, G, Nakayama, K, Nondahl, D, Onipinla, A, Rafelt, S, Newhouse, SJ, Otieno, FG, Patel, SR, Putt, ME, Rodriguez, S, Safa, RN, Sawyer, DB, Schreiner, PJ, Simpson, C, Sivapalaratnam, S, Srinivasan, SR, Suver, C, Swergold, G, Sweitzer, NK, Thomas, KA, Thorand, B, Timpson, NJ, Tischfield, S, Tobin, M, Tomaszewski, M, Tomaszweski, M, Verschuren, WMM, Wallace, C, Winkelmann, B, Zhang, H, Zheng, D, Zhang, L, Zmuda, JM, Clarke, R, Balmforth, AJ, Danesh, J, Day, IN, Schork, NJ, Bakker, PIWd, Delles, C, Duggan, D, Hingorani, AD, Hirschhorn, JN, Hofker, MH, Humphries, SE, Kivimaki, M, Lawlor, DA, Kottke-Marchant, K, Mega, JL, Mitchell, BD, Morrow, DA, Palmen, J, Redline, S, Shields, DC, Shuldiner, AR, Sleiman, PM, Smith, GD, Farrall, M, Jamshidi, Y, Christiani, DC, Casas, JP, Hall, AS, Doevendans, PA, Christie, JD, Berenson, GS, Murray, SS, Illig, T, Dorn, GW, Cappola, TP, Boerwinkle, E, Sever, P, Rader, DJ, Reilly, MP, Caulfield, M, Talmud, PJ, Topol, E, Engert, JC, Wang, K, Dominiczak, A, Hamsten, A, Curtis, SP, Silverstein, RL, Lange, LA, Sabatine, MS, Trip, M, Saleheen, D, Peden, JF, Cruickshanks, KJ, März, W, O'Connell, JR, Klungel, OH, Wijmenga, C, Zee, AHMd, Schadt, EE, Johnson, JA, Jarvik, GP, Papanicolaou, GJ, Grant, SFA, Munroe, PB, North, KE, Samani, NJ, Koenig, W, Gaunt, TR, Anand, SS, Schouw, YTvd, Soranzo, N, Fitzgerald, GA, Reiner, A, Hegele, RA, Hakonarson, H, Keating, BJ & 2011, ‘Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height’. The American Journal of Human Genetics, vol 88., pp. 6 - 18
  • Rodríguez, S, Cook, D, Gaunt, T, Nightingale, C, Whincup, P & Day, I 2011, ‘Combined analysis of CHRNA5, CHRNA3 and CYP2A6 in relation to adolescent smoking behaviour’. Journal of Psychopharmacology, vol 25., pp. 915 - 923

View complete publications list in the University of Bristol publications system

Edit this profile If you are Dr Santi Rodriguez, you can edit this page. Login required.

PDF versionDownload PDF