作者: Urko M Marigorta , Oscar Lao , Ferran Casals , Francesc Calafell , Carlos Morcillo-Suárez
关键词: Single-nucleotide polymorphism 、 Genetic association 、 Biology 、 Allele 、 Genetic variability 、 Genetics 、 Disease 、 False positive paradox 、 Genome-wide association study 、 Genetic variation
摘要: Background: Searching for associations between genetic variants and complex diseases has been a very active area of research over two decades. More than 51,000 potential have studied published, figure that keeps increasing, especially with the recent explosion array-based Genome-Wide Association Studies. Even if number true described so far is high, many putative risk detected failed to be consistently replicated are widely considered false positives. Here, we focus on worldwide patterns replicability published association studies. Results: We report three main findings. First, contrary previous results, genes associated present lower degrees differentiation among human populations average genome-wide levels. Second, also differences in disease associated-loci Europeans East Asians highly correlated these populations. Finally, increased levels high-frequency derived alleles European Asian when compared African Conclusions: Our findings highlight heterogeneous nature etiology disease, confirm importance evolutionary history our species current susceptibility could cast doubts status as positives some replicate across