Bayesian refinement of association signals for 14 loci in 3 common diseases
| Autor: | Maller, JB, McVean, G, Byrnes, J, Vukcevic, D, Palin, K, Su, Z, Howson, JMM, Auton, A, Myers, S, Morris, A, Pirinen, M, Brown, MA, Burton, PR, Caulfield, MJ, Compston, A, Farrall, M, Hall, AS, Hattersley, AT, Hill, AVS, Mathew, CG, Pembrey, M, Satsangi, J, Stratton, MR, Worthington, J, Craddock, N, Hurles, M, Ouwehand, W, Parkes, M, Rahman, N, Duncanson, A, Todd, JA, Kwiatkowski, DP, Samani, NJ, Gough, SCL, McCarthy, MI, Deloukas, P, Donnelly, P |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
endocrine system diseases
Posterior probability Alpha-Ketoglutarate-Dependent Dioxygenase FTO Single-nucleotide polymorphism Genome-wide association study Coronary Artery Disease Biology FTO gene Polymorphism Single Nucleotide Article Bayes' theorem Genetics Humans CTLA-4 Antigen Genetic Predisposition to Disease Genetic association Cyclin-Dependent Kinase Inhibitor p15 Homeodomain Proteins tRNA Methyltransferases Genes p16 Proteins nutritional and metabolic diseases Bayes Theorem Cyclin-Dependent Kinase 5 Graves Disease TRNA Methyltransferases Diabetes Mellitus Type 2 Genetic Loci TCF7L2 Transcription Factor 7-Like 2 Protein Genome-Wide Association Study Transcription Factors |
| Zdroj: | Maller, J B, McVean, G, Byrnes, J, Vukcevic, D, Palin, K, Su, Z, Howson, J M M, Auton, A, Myers, S, Morris, A, Pirinen, M, Brown, M A, Burton, P R, Caulfield, M J, Compston, A, Farrall, M, Hall, A S, Hattersley, A T, Hill, A V S, Mathew, C G, Pembrey, M, Satsangi, J, Stratton, M R, Worthington, J, Craddock, N, Hurles, M, Ouwehand, W, Parkes, M, Rahman, N, Duncanson, A, Todd, J A, Kwiatkowski, D P, Samani, N J, Gough, S C L, McCarthy, M I & Deloukas, P & Donnelly, P 2012, ' Bayesian refinement of association signals for 14 loci in 3 common diseases ', Nature Genetics, vol. 44, pp. 1294-301 . https://doi.org/10.1038/ng.2435 |
| ISSN: | 1546-1718 1061-4036 |
| Popis: | To further investigate susceptibility loci identified by genome-wide association studies, we genotyped 5,500 SNPs across 14 associated regions in 8,000 samples from a control group and 3 diseases: type 2 diabetes (T2D), coronary artery disease (CAD) and Graves' disease. We defined, using Bayes theorem, credible sets of SNPs that were 95% likely, based on posterior probability, to contain the causal disease-associated SNPs. In 3 of the 14 regions, TCF7L2 (T2D), CTLA4 (Graves' disease) and CDKN2A-CDKN2B (T2D), much of the posterior probability rested on a single SNP, and, in 4 other regions (CDKN2A-CDKN2B (CAD) and CDKAL1, FTO and HHEX (T2D)), the 95% sets were small, thereby excluding most SNPs as potentially causal. Very few SNPs in our credible sets had annotated functions, illustrating the limitations in understanding the mechanisms underlying susceptibility to common diseases. Our results also show the value of more detailed mapping to target sequences for functional studies. © 2012 Nature America, Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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