Santi Rodriguez

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.

2009

Dennison EM, Lips MA, Syddall H, Jameson K, Aihie Sayer A, Gaunt TR, Rodriguez S, Day INM and Cooper C and the Hertfordshire Cohort Study Group. 2009. A study of relationships between Single Nucleotide Polymorphisms from the Growth Hormone- Insulin Like Growth Factor axis and bone mass: the Hertfordshire Cohort Study. Journal of Rheumatology (in press)

S. Rodriguez, T.R. Gaunt and I.N.M. Day. 2009. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian Randomization studies. American Journal of Epidemiology 169: 505-514. PubMed

2008

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.

Mohammad R. Abdollahi, Shuwen Huang, Santiago Rodriguez, Philip A I Guthrie, George Davey Smith, Shah Ebrahim, Debbie A Lawlor, Ian N M Day, Tom R. Gaunt. 2008. Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). Disease Markers 24(1): 11-17. PubMed

2007

Tom R. Gaunt, Santiago Rodriguez and Ian N. M. Day. 2007. Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool ‘CubeX’. BMC Bioinformatics 8: 428 PubMed

Santiago Rodriguez, Tom R Gaunt, Igor Vorechovsky, Jana Kralovicova, Peter J Wood, Ian N M Day. 2007. Comment on: Marchand and Polychronakos (2007) Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes: Diabetes 56:709-713. Diabetes 56(9): e16. PubMed

Mirjam A Lips, Holly E Syddall, Tom R Gaunt, Santiago Rodriguez, Ian NM Day, Cyrus Cooper, Elaine M Dennison and the Southampton Genetic Epidemiology Research Group. 2007. Interaction between birth-weight and polymorphism in the Calcium Sensing Receptor gene in determination of adult bone mass: The Hertfordshire Cohort Study. Journal of Rheumatology 34: 769-775. PubMed

Santiago Rodriguez, Tom R. Gaunt and Ian N. M. Day. 2007. Molecular Genetics of the Human Insulin-like Growth Factor Pathways in Complex Traits. Human Genetics 122: 1-21. (REVIEW). Pubmed

Mohammad R. Abdollahi, Rohan M. Lewis, Thomas R. Gaunt, Debbie V. E. Cumming, Santiago Rodriguez, Matthew Rose-Zerilli, Andrew R Collins, Holly E. Syddall, William M Howell, Cyrus Cooper, Keith M. Godfrey, Iain T. Cameron, Ian N. M. Day. 2007. Quantitated Transcript Haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (at rs5186:A>C), and relevance to metabolic syndrome traits. Human Mutation 28: 365-73. PubMed

2006

INM Day, S Rodriguez, J Kralovicova, PJ Wood, I Vorechovsky and TR Gaunt. 2006. Questioning INS VNTR role in obesity and diabetes: subclasses tag TH-INS-IGF2 haplotypes; and -23HphI as a ‘STEP’ (splicing and translational efficiency polymorphism). Physiological Genomics 28: 113. PubMed

Weihua Zhang†, Nikolas Maniatis†, Santiago Rodriguez, George J. Miller, Ian N. M. Day, Tom R. Gaunt, Andrew R Collins, and Newton E. Morton. † Equal first authorship. 2006. Refined association mapping for a quantitative trait: weight in the H19-GF2-INS-TH region. Annals of Human Genetics 70: 848-856 PubMed

Tom R. Gaunt†, Santiago Rodriguez†, Carlos Zapata and Ian N. M. Day. † Equal first authorship. 2006. MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers. BMC Bioinformatics 7: 227. PubMed

Santiago Rodriguez, Shuwen Huang, Xiao-he Chen, Tom R. Gaunt, Holly E. Syddall, Julie Gilg, George J. Miller, Cyrus C. Cooper, Derek G. Cook, Peter H. Whincup and Ian N.M. Day. 2006. A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three cohorts. Pharmacogenetics and Genomics 16: 15-23. PubMed

J Kralovicova, TR Gaunt, S Rodriguez, PJ Wood, INM Day and I Vorechovsky. 2006. Variants in the human insulin gene that affect pre-mRNA splicing: is –23HphI a functional SNP at IDDM2? Diabetes 55: 260-264. PubMed

Santiago Rodriguez, Tom R Gaunt, Elaine Dennison, Xiao-he Chen, Holly E Syddall, David I W Phillips, Cyrus Cooper and Ian N M Day. 2006. Replication of IGF2-INS-TH *5 haplotype effect on obesity in older men and study of related phenotypes. European Journal of Human Genetics 14: 109-16.PubMed

2005

Santiago Rodriguez, Xiao-he Chen, George J. Miller and Ian N. M. Day. 2005. Nonrecombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2743 middle-aged Caucasian men from the UK. Human Genetics 116: 311-318. PubMed

Ian A Yang, Olaf Holz, Rudolf A Jörres, Helgo Magnussen, Sheila J Barton, Santiago Rodriguez, Julie A Cakebread, John W Holloway, Stephen T Holgate. 2005. Association of tumour necrosis factor-α polymorphisms and ozone-induced change in lung function. American Journal of Respiratory and Critical Care Medicine 171: 171-176. PubMed

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

2004

Ian N M Day, †Xiao-he Chen, †Tom R Gaunt, Tabitha H T King, Anca Voropanov, Shu Ye, †Santiago Rodriguez, Holly E Syddall, Avan Aihie Sayer, Elaine M Dennison, Faiza Tabassum, David J P Barker, Cyrus Cooper, David I W Phillips  † Equal contributorships. 2004. Late life metabolic syndrome, early growth and common polymorphism in the growth hormone and placental lactogen gene cluster. Journal of Clinical Endocrinology and Metabolism 89: 5569-5576. PubMed

Dennison EM, Syddall H, Rodriguez S, Voropanov A, Day I, Cooper C and the Southampton Genetic Epidemiologic Research Group+ (Xiao-he Chen, Tom R Gaunt, Tabitha HT King, Shu Ye, Faiza Tabassum, Nigel Arden, Avan Aihie Sayer, David IW Phillips, David JP Barker). 2004. Polymorphisms of the growth hormone gene are associated with adult bone mass and infant growth. Journal of Clinical Endocrinology and Metabolism 89: 4898-4903.PubMed

†Xiao-he Chen, †Santiago Rodriguez, Emma Hawe, Philippa J Talmud, George J Miller, Peter Underhill, Stephen E Humphries, Ian NM Day  † Equal first authorship. 2004. Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. Human Heredity 57: 142-155. PubMed

Santiago Rodriguez†, Tom R. Gaunt†, Sandra D. O’Dell, Xiao-he Chen, Dongfeng Gu, Emma Hawe, George J Miller, Stephen E. Humphries and Ian N. M. Day  † Equal first authorship. 2004. Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Human Molecular Genetics13: 715-725. PubMed
Rodriguez S, Chen X and Day INM. 2004. Typing dinucleotide repeat loci using Microplate Array Diagonal Gel Electrophoresis: proof of principle. Electrophoresis 25: 975-979. PubMed

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. (REVIEW). Link

Laura Rodríguez, Santiago Rodriguez, Juan Hermida, Carlos Frade, Esther Sande, Guillermo Visedo, Carlos Martín & Carlos Zapata. 2004. The proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. American Journal of Medical Genetics 128A: 19-22. PubMed

Pre-2004

Rodriguez S. & Zapata C. 2002. Typing dinucleotide repeats under non-denaturing conditions with single-base resolution and high sizing precision. Molecular Biotechnology 21: 117-122.PubMed

Zapata C., Carollo C. & Rodriguez S. 2001. Sampling variance and distribution of the D’ measure of overall gametic disequilibrium between pairs of multiallelic loci. Annals of Human Genetics 65: 395-406. PubMed

Zapata C., Rodriguez S., Visedo G. & Sacristán F. 2001. Spectrum of non-random associations between microsatellite loci on human chromosome 11p15. Genetics 158: 1235-1251. PubMed

Rodriguez S., Visedo G. & Zapata C. 2001. Detection of errors in dinucleotide repeat typing by non-denaturing electrophoresis. Electrophoresis 22: 2656-2664. PubMed

Castro J., Rodriguez S., Pardo B. G., Sánchez L. & P. Martínez. 2001. Population analysis of an unusual NOR-site polymorphisms in brown trout (Salmo trutta). Heredity, 86: 291-302. PubMed

Castro J., Rodriguez S., Arias J., Sánchez L. & P. Martínez. 1994. A population analysis of Robertsonian and Ag-NOR polymorphisms in brown trout (Salmo trutta). Theoretical and Applied Genetics, 89: 105-111. Link