Santiago Rodriguez

Summary

Affiliation: University of Bristol
Country: UK

Publications

  1. pmc Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, and Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Invest Dermatol 133:1760-7. 2013
  2. doi request reprint Very low PSA concentrations and deletions of the KLK3 gene
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE and Bristol Genetic Epidemiology Laboratories BGEL, University of Bristol, Bristol, UK
    Clin Chem 59:234-44. 2013
  3. ncbi request reprint Molecular and population analysis of natural selection on the human haptoglobin duplication
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, United Kingdom
    Ann Hum Genet 76:352-62. 2012
  4. pmc Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories BGEL, Department of Social Medicine, University of Bristol, Bristol, UK
    PLoS ONE 4:e5784. 2009
  5. doi request reprint Combined analysis of CHRNA5, CHRNA3 and CYP2A6 in relation to adolescent smoking behaviour
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, and Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Psychopharmacol 25:915-23. 2011
  6. ncbi request reprint Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK
    Hum Genet 122:1-21. 2007
  7. pmc IGF2BP1, IGF2BP2 and IGF2BP3 genotype, haplotype and genetic model studies in metabolic syndrome traits and diabetes
    S Rodriguez
    Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Growth Horm IGF Res 20:310-8. 2010
  8. pmc Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS)
    Mohammad Reza Abdollahi
    Bristol Genetic Epidemiology Laboratory, University of Bristol, No 24 Tyndall Avenue, Bristol, BS8 1TQ, UK
    Dis Markers 24:11-7. 2008
  9. pmc Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Am J Epidemiol 169:505-14. 2009
  10. pmc Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol
    Philip A I Guthrie
    Bristol Genetic Epidemiology Laboratory BGEL, MRC Centre for Causal Analyses in Translational Epidemiology MRC CAiTE, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Clifton BS8 2BN, UK
    Gene 499:8-13. 2012

Detail Information

Publications19

  1. pmc Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, and Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Invest Dermatol 133:1760-7. 2013
    ..It also indicates potential cost saving to the nonodorous and scope for personalized genetics usage in personal hygiene choices, with consequent reduction of inappropriate chemical exposures for some...
  2. doi request reprint Very low PSA concentrations and deletions of the KLK3 gene
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE and Bristol Genetic Epidemiology Laboratories BGEL, University of Bristol, Bristol, UK
    Clin Chem 59:234-44. 2013
    ..We hypothesized that very low PSA concentrations might reflect gene-inactivating mutations in KLK3 that lead to abnormally reduced gene expression...
  3. ncbi request reprint Molecular and population analysis of natural selection on the human haptoglobin duplication
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, United Kingdom
    Ann Hum Genet 76:352-62. 2012
    ..1. Taken together, our results represent the first molecular analysis of natural selection in the Hp CNV genetic region...
  4. pmc Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories BGEL, Department of Social Medicine, University of Bristol, Bristol, UK
    PLoS ONE 4:e5784. 2009
    ..Filaggrin is expressed in the tympanic membrane and could alter its mechanical properties, but the relationship between genetic variation in FLG and hearing has not yet been tested...
  5. doi request reprint Combined analysis of CHRNA5, CHRNA3 and CYP2A6 in relation to adolescent smoking behaviour
    Santiago Rodriguez
    MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, and Bristol Genetic Epidemiology Laboratories BGEL, School of Social and Community Medicine, University of Bristol, Bristol, UK
    J Psychopharmacol 25:915-23. 2011
    ..In contrast, CHRNA5 genotype, acting recessively, affects smoking similarly in adolescents and older adults. These contrasting actions, in digenic combination, illustrate behavioural genetic complexity...
  6. ncbi request reprint Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK
    Hum Genet 122:1-21. 2007
    ..We review these genes and their associations with disease phenotypes, with special attention to metabolic risk traits...
  7. pmc IGF2BP1, IGF2BP2 and IGF2BP3 genotype, haplotype and genetic model studies in metabolic syndrome traits and diabetes
    S Rodriguez
    Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Growth Horm IGF Res 20:310-8. 2010
    ..Our aim was to explore the underlying genetic model and mechanism of action, factors accounting for non-replications of the associations, and the effect of variation from pathway-related genes IGF2BP1 and IGF2BP3...
  8. pmc Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS)
    Mohammad Reza Abdollahi
    Bristol Genetic Epidemiology Laboratory, University of Bristol, No 24 Tyndall Avenue, Bristol, BS8 1TQ, UK
    Dis Markers 24:11-7. 2008
    ..Liquid phase genotyping of SNP rs4343 may be preferable to gel based ACE I/D genotyping both for technical and functional reasons...
  9. pmc Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Am J Epidemiol 169:505-14. 2009
    ..The authors also present a Web program (http://www.oege.org/software/hwe-mr-calc.shtml) for estimating possible missingness and an approach to evaluating missingness under different genetic models...
  10. pmc Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol
    Philip A I Guthrie
    Bristol Genetic Epidemiology Laboratory BGEL, MRC Centre for Causal Analyses in Translational Epidemiology MRC CAiTE, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Clifton BS8 2BN, UK
    Gene 499:8-13. 2012
    ....
  11. pmc Amplification ratio control system for copy number variation genotyping
    Philip A I Guthrie
    Bristol Genetic Epidemiology Laboratory and MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Oakfield Grove, Clifton BS8 2BN, UK
    Nucleic Acids Res 39:e54. 2011
    ..The design is generic, simple to set up and economical. Comparisons with real-time PCR and other techniques are made and CNV assays demonstrated for haptoglobin duplicon and 'chemokine (C-C motif) ligand 3-like 1' gene...
  12. doi request reprint An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history
    Tom R Gaunt
    MRC Centre for Causal Analyses in Translational Epidemiology and Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Bristol, United Kingdom
    Hum Mutat 31:414-20. 2010
    ..We have applied this approach to the analysis of salivary amylase (AMY1A, B, and C), CCL3L1, and SULT1A1 CNVs using published data, and present inferences about the evolutionary history of these loci based on CoNVEM results...
  13. pmc Genetic variation at the SLC23A1 locus is associated with circulating concentrations of L-ascorbic acid (vitamin C): evidence from 5 independent studies with >15,000 participants
    Nicholas J Timpson
    Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Department of Social Medicine, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
    Am J Clin Nutr 92:375-82. 2010
    ..To date, there are no confirmed genetic correlates of circulating concentrations of L-ascorbic acid...
  14. pmc Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'
    Tom R Gaunt
    Bristol Genetic Epidemology Laboratories BGEL and MRC Centre for Causal Analyses in Translational Epidemiology CAiTE, Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK
    BMC Bioinformatics 8:428. 2007
    ....
  15. pmc Fetal alcohol exposure and IQ at age 8: evidence from a population-based birth-cohort study
    Sarah J Lewis
    School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom
    PLoS ONE 7:e49407. 2012
    ..Associations between children's cognitive function and both maternal and child genotype at these loci can shed light on the effects of maternal alcohol consumption on offspring cognitive development...
  16. ncbi request reprint Questioning INS VNTR role in obesity and diabetes: subclasses tag IGF2-INS-TH haplotypes; and -23HphI as a STEP (splicing and translational efficiency polymorphism)
    Ian N M Day
    Physiol Genomics 28:113. 2006
  17. ncbi request reprint 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
    Santiago Rodriguez
    Diabetes 56:e16; author reply e17. 2007
  18. ncbi request reprint Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?
    Jana Kralovicova
    University of Southampton School of Medicine, Human Genetics Division, Duthie Building, MP808, Tremona Road, Southampton SO16 6YD, U K
    Diabetes 55:260-4. 2006
    ..These results indicate that -23HphI and IVS-69 are the most important INS variants affecting pre-mRNA splicing and suggest that -23HphI+/- is a common functional single nucleotide polymorphism at IDDM2...
  19. ncbi request reprint Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster
    Ian N M Day
    Human Genetics Division, Duthie Building Mp808, Tremona Road, School of Medicine, Southampton University Hospital, Southampton, United Kingdom SO16 6YD
    J Clin Endocrinol Metab 89:5569-76. 2004
    ..GH-CSH genotype adds substantially to, but does not account for, the associations between low body weight, at birth and in infancy, and the metabolic syndrome...