Santiago Rodriguez, BSc, PhD

Senior Lecturer in Population and Molecular Genetics

Bristol Genetic Epidemiology Laboratories,
School of Social and Community Medicine,
Oakfield House,
Oakfield Grove,

Current work

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.

Previous work

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

My PhD project in the USC (Spain) 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.

My postdoctoral work in the Human Genetics Division (University of Southampton), funded in the first instance by a European Community Marie Curie Fellowship, was 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).


PI Grants

Medical Research Council Project Grant MR/K002767/1 (2013-2016)
Cancer Research UK Small Grant C30152/A11314 (2009-2010)

Other Grants

British Heart Foundation Project Grant PG/07/131/24254 (2007-2010)


Individual Marie Curie Fellowship awarded by the European Community (2001-2002) (University of Southampton).

Predoctoral and Postdoctoral Personal Fellowships (competitive awards) funded by Ministerio de Educación y Ciencia, Xunta de Galicia and Universidad de Santiago de Compostela (1993-2001) (Universidad de Santiago de Compostela).

Publications listed in PubMed and in press

  1. Rodriguez S, Steer CD, Farrow A, Golding J, Day IN. Dependence of Deodorant Usage on ABCC11 Genotype: Scope for Personalized Genetics in Personal Hygiene. J Invest Dermatol. 2013 Jan 17. doi: 10.1038/jid.2012.480. [Epub ahead of print]
  2. Rodriguez S, Al-Ghamdi O, Burrows K, Guthrie PAI, Lane JA, Davis M, Marsden G, Alharbi K, Cox A, Hamdy F, Neal D, Donovan J and Day IN. Very low PSA levels and deletions of the KLK3 gene. Clinical Chemistry 2013 59(1):234-44.
  3. Lewis SJ, Zuccolo L, Davey Smith G, Macleod J, Rodriguez S, Draper ES, Barrow M, Alati R, Sayal K, Ring S, Golding J, Gray G. Fetal alcohol exposure and IQ at age 8: evidence from a population based birth-cohort study. PLoS ONE 2012;7(11):e49407.
  4. Rodriguez S, Williams DM, Guthrie PAI, McArdle WL, Davey Smith G, Evans DM, Gaunt TR, Day IN. Molecular and Population Analysis of Natural Selection on the Human Haptoglobin Duplication. Annals of Human Genetics 2012 76,352–362.
  5. Guthrie PAI, Rodriguez S, Gaunt TR, Lawlor DA, Davey Smith G, Day IN. Complexity of a complex trait locus: HP, HPR, hemoglobin and cholesterol. Gene 2012 499(1):8-13.
  6. Rodriguez S, Cook DG, Gaunt TR, Nightingale CM, Whincup PH, Day IN. Combined analysis of CHRNA5, CHRNA3 and CYP2A6 in relation to adolescent smoking behaviour. J Psychopharmacol. 2011 Jul;25(7):915-23.
  7. 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. Genetic Variants Associated with von Willebrand Factor Levels in Healthy Men and Women Identified Using the HumanCVD BeadChip. Ann Hum Genet. 2011 Jul;75(4):456-467.
  8. Guthrie PAI, Gaunt TR, AbdollahiMR, Rodriguez S, Lawlor DA, Davey Smith G, Day INM. Amplification Ratiometry Control System (ARCS) for Copy Number Variation Genotyping. Nucleic Acids Res. 2011 Apr;39(8):e54. Epub 2011 Feb 7.
  9. 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 SP, Mehta A, van Iperen EP, 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 JM, Boehm BO, Bradfield JP, Brown M, Braund PS, Burton PR, Carty C, Chandrupatla HR, Chen W, Connell J, Dalgeorgou C, Boer A, 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 GH, Johnson WC, Li Q, Kleber ME, Klein BE, 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, Tomaszweski M, Verschuren WM, Wallace C, Winkelmann B, Zhang H, Zheng D, Zhang L, Zmuda JM, Clarke R, Balmforth AJ, Danesh J, Day IN, Schork NJ, de Bakker PI, 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 2nd, 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, Maitland-van der Zee AH, Schadt EE, Johnson JA, Jarvik GP, Papanicolaou GJ; Hugh Watkins on behalf of PROCARDIS, Grant SF, Munroe PB, North KE, Samani NJ, Koenig W, Gaunt TR, Anand SS, van der Schouw YT; Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group, Soranzo N, Fitzgerald GA, Reiner A, Hegele RA, Hakonarson H, Keating BJ. Meta-analysis of dense gene-centric association studies reveals common and uncommon variants associated with height. Am J Hum Genet. 2011 Jan 7;88(1):6-18. Epub 2010 Dec 30.
  10. Alharbi KK, Aldahmesh MA, Gaunt TR, Rassoulian H, Guthrie PAI, Rodriguez S, Boustred C, Spanakis E and Day INM. MeltMADGE for mutation scanning of specific genes in population studies. Nature Protocols 2010;5(11):1800-12.
  11. Rodriguez S, Eiriksdottir G, Gaunt TR, Harris TB, Launer LJ, Gudnason V, Day INM. IGF2BP1, IGF2BP2 and IGF2BP3 genotype, haplotype and genetic model studies in metabolic syndrome traits and diabetes. Growth Horm IGF Res. 2010 Aug;20(4):310-8.
  12. Timpson NJ, Forouhi N, Brion M, Harbord R, Cook D, Johnson P, McConnachie A, Morris R, Rodriguez S, Luan J, Ebrahim S, Padmanabhan S, Watt G, Bruckdorfer R, Wareham N, Whincup P, Chanock S, Sattar N, Lawlor DA, Davey Smith G. Genetic variation at the SLC23A1 locus is associated with circulating levels of L-ascorbic acid (Vitamin C). Evidence from 5 independent studies with a total of 15087 participants. Am J Clin Nutr. 2010 Aug;92(2):375-82.
  13. Gaunt TR, Rodriguez S, Guthrie PA, Day IN. An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history. Hum Mutat. 2010 Jan 14;31(4):414-420.
  14. Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD; ASCOT investigators; NORDIL investigators; BRIGHT Consortium. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am J Hum Genet. 2009 Nov;85(5):628-42.
  15. Chen L, Davey Smith G, Evans DM, Cox A, Lawlor DA, Donovan J, Yuan W, Day IN, Martin RM, Lane A, Rodriguez S, Davis M, Zuccolo L, Collin SM, Hamdy F, Neal D, Lewis SJ. Genetic variants in the vitamin d receptor are associated with advanced prostate cancer at diagnosis: findings from the prostate testing for cancer and treatment study and a systematic review. Cancer Epidemiol Biomarkers Prev. 2009 Nov;18(11):2874-81. Epub 2009 Oct 27.
  16. Rodriguez S, Hall AJ, Granell R, McLean WH, Irvine AD, Palmer CN, Smith GD, Henderson J, Day IN. Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort. PLoS One. 2009 Jun 3;4(6):e5784.
  17. Dennison EM, Syddall HE, Jameson KA, Sayer AA, Gaunt TR, Rodriguez S, Day IN, Cooper C, Lips MA; Hertfordshire Cohort Study Group. A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study. J Rheumatol. 2009 Jul;36(7):1520-6. Epub 2009 Jun 1.
  18. Rodriguez S, Gaunt TR, Day IN. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol. 2009 Feb 15;169(4):505-14. Epub 2009 Jan 6.
  19. Abdollahi MR, Huang S, Rodriguez S, Guthrie PA, Smith GD, Ebrahim S, Lawlor DA, Day IN, Gaunt TR. Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). Dis Markers. 2008;24(1):11-7.
  20. Gaunt TR, Rodriguez S, Day IN. Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'. BMC Bioinformatics. 2007 Nov 2;8:428.
  21. Comment Letter Rodriguez S, Gaunt TR, Vorechovsky I, Kralovicova J, Wood PJ, Day IN. Diabetes. 2007 Sep;56(9):e16; author reply e17.
  22. Rodriguez S, Gaunt TR, Day IN. Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease. Hum Genet. 2007 Aug;122(1):1-21. Epub 2007 May 30.
  23. Lips MA, Syddall HE, Gaunt TR, Rodriguez S, Day IN, Cooper C, Dennison EM; Southampton Genetic Epidemiology Research Group. Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study. J Rheumatol. 2007 Apr;34(4):769-75. Epub 2007 Feb 15.
  24. Abdollahi MR, Lewis RM, Gaunt TR, Cumming DV, Rodriguez S, Rose-Zerilli M, Collins AR, Syddall HE, Howell WM, Cooper C, Godfrey KM, Cameron IT, Day IN. Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits. Hum Mutat. 2007 Apr;28(4):365-73.
  25. Zhang W, Maniatis N, Rodriguez S, Miller GJ, Day IN, Gaunt TR, Collins A, Morton NE. Refined association mapping for a quantitative trait: weight in the H19-IGF2-INS-TH region. Ann Hum Genet. 2006 Nov;70(Pt 6):848-56.
  26. Day IN, Rodriguez S, Kralovicova J, Wood PJ, Vorechovsky I, Gaunt TR. Questioning INS VNTR role in obesity and diabetes: subclasses tag IGF2-INS-TH haplotypes; and -23HphI as a STEP (splicing and translational efficiency polymorphism). Physiol Genomics. 2006 Dec 13;28(1):113. Epub 2006 Aug 1.
  27. Gaunt TR, Rodriguez S, Zapata C, Day IN. MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers. BMC Bioinformatics. 2006 Apr 27;7:227.
  28. Kralovicova J, Gaunt TR, Rodriguez S, Wood PJ, Day IN, Vorechovsky I. Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2? Diabetes. 2006 Jan;55(1):260-4.
  29. Rodriguez S, Huang S, Chen XH, Gaunt TR, Syddall HE, Gilg JA, Miller GJ, Cooper CC, Cook DG, Whincup PH, Day IN. A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three independent surveys. Pharmacogenet Genomics. 2006 Jan;16(1):15-23.
  30. Rodriguez S, Gaunt TR, Dennison E, Chen XH, Syddall HE, Phillips DI, Cooper C, Day IN. Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes. Eur J Hum Genet. 2006 Jan;14(1):109-16.
  31. Rodriguez S, Chen XH, Miller GJ, Day IN. Non-recombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK. Hum Genet. 2005 Mar;116(4):311-8. Epub 2005 Jan 27.
  32. Day IN, Chen XH, Gaunt TR, King TH, Voropanov A, Ye S, Rodriguez S, Syddall HE, Sayer AA, Dennison EM, Tabassum F, Barker DJ, Cooper C, Phillips DI. Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster. J Clin Endocrinol Metab. 2004 Nov;89(11):5569-76.
  33. Yang IA, Holz O, Jorres RA, Magnussen H, Barton SJ, Rodriguez S, Cakebread JA, Holloway JW, Holgate ST. Association of tumor necrosis factor-alpha polymorphisms and ozone-induced change in lung function. Am J Respir Crit Care Med. 2005 Jan 15;171(2):171-6. Epub 2004 Oct 14.
  34. Dennison EM, Syddall HE, Rodriguez S, Voropanov A, Day IN, Cooper C; Southampton Genetic Epidemiology Research Group. Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. J Clin Endocrinol Metab. 2004 Oct;89(10):4898-903.
  35. Chen XH, Rodriguez S, Hawe E, Talmud PJ, Miller GJ, Underhill P, Humphries SE, Day IN. Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. Hum Hered. 2004;57(3):142-55.
  36. Rodriguez L, Rodriguez S, Hermida J, Frade C, Sande E, Visedo G, Martin C, Zapata C. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. Am J Med Genet A. 2004 Jul 1;128A(1):19-22.
  37. Rodriguez S, Chen XH, Day IN. Typing dinucleotide repeat loci using microplate array diagonal gel electrophoresis: proof of principle. Electrophoresis. 2004 Apr;25(7-8):975-9.
  38. Rodriguez S, Gaunt TR, O'Dell SD, Chen XH, Gu D, Hawe E, Miller GJ, Humphries SE, Day IN. Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Hum Mol Genet. 2004 Apr 1;13(7):715-25. Epub 2004 Jan 28.
  39. Rodriguez S, Zapata C. Typing dinucleotide repeats under nondenaturing conditions with single-base resolution and high sizing precision. Mol Biotechnol. 2002 Jun;21(2):117-22.
  40. Zapata C, Carollo C, Rodriguez S. Sampling variance and distribution of the D' measure of overall gametic disequilibrium between multiallelic loci. Ann Hum Genet. 2001 Jul;65(Pt 4):395-406.
  41. Rodriguez S, Visedo G, Zapata C. Detection of errors in dinucleotide repeat typing by nondenaturing electrophoresis. Electrophoresis. 2001 Aug;22(13):2656-64.
  42. Castro J, Rodriguez S, Pardo BG, Sanchez L, Martinez P. Population analysis of an unusual NOR-site polymorphism in brown trout (Salmo trutta L.). Heredity. 2001 Mar;86(Pt 3):291-302.
  43. Zapata C, Rodriguez S, Visedo G, Sacristan F. Spectrum of nonrandom associations between microsatellite loci on human chromosome 11p15. Genetics. 2001 Jul;158(3):1235-51.
  44. Castro J, Rodríguez S, Arias J., Sánchez L. & P. Martínez. A population analysis of Robertsonian and Ag-NOR polymorphisms in brown trout (Salmo trutta). Theoretical and Applied Genetics;1994.89:105-111.

Book Chapters and Reviews

  1. Rodriguez S, Gaunt TR, Abdollahi MR, Sonnenberg S & Day INM, 2009. Genetic endocrinology of the metabolic syndrome, Nova Publishers. ISBN: 1606921681
  2. Rodriguez S, Gaunt TR, Abdollahi MR, Sonnenberg S, Day IN. 2008. Genetic endocrinology of the metabolic syndrome: networks of genotype-determined feedback loop setpoints. In: Batone TE, Editor. Metabolic Syndrome Research Trends. New York: Nova Publishers. pp. 1-63 (BOOK CHAPTER). Link. Selected for republication in “Diabetes Mellitus Research Advances”. 2009. Editor M N Huber. Nova Publishers, pages 1-62.
  3. Rodriguez S, Gaunt TR and Day INM. 2007. Molecular Genetics of the Human Insulin-like Growth Factor Pathways in Complex Traits. Human Genetics 122: 1-21. Link to Pubmed
  4. Rodriguez S, Gaunt TR, Abdollahi MR, Huang S, Al-Harbi K, Chen X and Day INM. 2005. Genomic applications of Microplate-Array Diagonal-Gel Electrophoresis (MADGE). Approaches for SNPs, microsatellites, RNA expression and unknown mutations. BIOforum Europe (01/2005: 42-43). (REVIEW). Selected for republication in BIOforum Europe Highlights issue for 2006 (01/2006: 52-53). Link
  5. Day INM, Al-Harbi K, Smith M, Al Dahmesh M, Zhang B, Lotery A, Cross NCP, Ye S, Eccles D, Fox K, Rodriguez S. 2004. Paucimorphic alleles versus polymorphic alleles in disease causation: theory, observation and detection. Current Genomics 5: 431-438. Link