Allelic Spectra of Risk SNPs Are Different for Environment/Lifestyle Dependent versus Independent Diseases

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We reviewed several thousand genome wide association studies that were conducted to identify genetic variants influencing risk of human diseases. We tested the hypothesis that single nucleotide polymorphisms (SNPs) that influence disease risk undergo positive or negative selection more frequently than an average SNP in the human genome. We found no evidence for excess of positive selection on disease-associated SNPs. At the same time we found that alleles associated with a higher disease risk undergo negative selection. We also demonstrated that risk alleles for diseases with strong influence of environment/lifestyle factors (e.g. Type II diabetes) show little evidence of negative selection, while risk alleles for diseases with weak influence of environment/lifestyle factors (e.g. Pathological myopia) show clear signs of negative selection. The approach used in this study can be used to estimate the number of genetic variants in the human genome influencing risk of human diseases.

Vyšlo v časopise: Allelic Spectra of Risk SNPs Are Different for Environment/Lifestyle Dependent versus Independent Diseases. PLoS Genet 11(7): e32767. doi:10.1371/journal.pgen.1005371
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005371

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