Dr Santiago Rodriguez

B.Sc., M.Sc., Ph.D.(Compostela)

  • BS8 2BN

1993 …2020

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Personal profile

Research interests

My current research is mainly focused on the study of the influence of genetic factors on common human diseases from an evolutionary, genetic epidemiological, epigenetic and functional point of view.

Specifically, I am interested on complex loci including mitochondrial DNA copy number, nuclear CNVs and non-recombining haplogroups. I have also published a number of studies on specific human diseases.

The analytical approaches used include association studies (and GWAS), causal analyses through Mendelian Randomisation, Bioinformatics, Population Genetics and whole-genome sequence analysis in consanguineous families.

Previous work includes linkage disequilibrium analyses, developing and patenting a new method for dinucleotide repeat genotyping, study of the human chromosome Y in the context of complex traits and 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. My experimental laboratory work included specific SNPs, microsatellites and method developments.

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  • A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

    Guyatt, A. L., Brennan, R. R., Burrows, K., Guthrie, P. A. I., Ascione, R., Ring, S. M., Gaunt, T. R., Pyle, A., Cordell, H. J., Lawlor, D. A., Chinnery, P. F., Hudson, G. & Rodriguez, S., 31 Jan 2019, In : Human Genomics. 13, 17 p., 6.

    Research output: Contribution to journalArticle (Academic Journal)

    Open Access
    File
    4 Citations (Scopus)
    218 Downloads (Pure)
  • Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

    Kraja, A. T., Liu, C., Fetterman, J. L., Graff, M., Have, C. T., Gu, C., Yanek, L. R., Feitosa, M. F., Arking, D. E., Chasman, D. I., Young, K., Ligthart, S., Hill, W. D., Weiss, S., Luan, J., Giulianini, F., Li-Gao, R., Hartwig, F. P., Lin, S. J., Wang, L. & 132 others, Richardson, T. G., Yao, J., Fernandez, E. P., Ghanbari, M., Wojczynski, M. K., Lee, W. J., Argos, M., Armasu, S. M., Barve, R. A., Ryan, K. A., An, P., Baranski, T. J., Bielinski, S. J., Bowden, D. W., Broeckel, U., Christensen, K., Chu, A. Y., Corley, J., Cox, S. R., Uitterlinden, A. G., Rivadeneira, F., Cropp, C. D., Daw, E. W., van Heemst, D., de las Fuentes, L., Gao, H., Tzoulaki, I., Ahluwalia, T. S., de Mutsert, R., Emery, L. S., Erzurumluoglu, A. M., Perry, J. A., Fu, M., Forouhi, N. G., Gu, Z., Hai, Y., Harris, S. E., Hemani, G., Hunt, S. C., Irvin, M. R., Jonsson, A. E., Justice, A. E., Kerrison, N. D., Larson, N. B., Lin, K. H., Love-Gregory, L. D., Mathias, R. A., Lee, J. H., Nauck, M., Noordam, R., Ong, K. K., Pankow, J., Patki, A., Pattie, A., Petersmann, A., Qi, Q., Ribel-Madsen, R., Rohde, R., Sandow, K., Schnurr, T. M., Sofer, T., Starr, J. M., Taylor, A. M., Teumer, A., Timpson, N. J., de Haan, H. G., Wang, Y., Weeke, P. E., Williams, C., Wu, H., Yang, W., Zeng, D., Witte, D. R., Weir, B. S., Wareham, N. J., Vestergaard, H., Turner, S. T., Torp-Pedersen, C., Stergiakouli, E., Sheu, W. H. H., Rosendaal, F. R., Ikram, M. A., Franco, O. H., Ridker, P. M., Perls, T. T., Pedersen, O., Nohr, E. A., Newman, A. B., Linneberg, A., Langenberg, C., Kilpeläinen, T. O., Kardia, S. L. R., Jørgensen, M. E., Jørgensen, T., Sørensen, T., Homuth, G., Hansen, T., Goodarzi, M. O., Deary, I. J., Christensen, C., Chen, Y. D. I., Chakravarti, A., Brandslund, I., Bonnelykke, K., Taylor, K. D., Wilson, J. G., Rodriguez, S., Davies, G., Horta, B. L., Thyagarajan, B., Rao, D. C., Grarup, N., Davila-Roman, V. G., Hudson, G., Guo, X., Arnett, D. K., Hayward, C., Vaidya, D., Mook-Kanamori, D. O., Tiwari, H. K., Levy, D., Loos, R. J. F., Dehghan, A., Elliott, P., Malik, A. N., Scott, R. A., Becker, D. M., de Andrade, M., Province, M. A., Meigs, J. B., Rotter, J. I. & North, K. E., 3 Jan 2019, In : American Journal of Human Genetics. 104, 1, p. 112-138 27 p.

    Research output: Contribution to journalArticle (Academic Journal)

    Open Access
    File
    19 Citations (Scopus)
    330 Downloads (Pure)
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