Recent human evolution has shaped geographical differences in susceptibility to disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-12

AUTHORS

Urko M Marigorta, Oscar Lao, Ferran Casals, Francesc Calafell, Carlos Morcillo-Suárez, Rui Faria, Elena Bosch, François Serra, Jaume Bertranpetit, Hernán Dopazo, Arcadi Navarro

ABSTRACT

BACKGROUND: Searching for associations between genetic variants and complex diseases has been a very active area of research for over two decades. More than 51,000 potential associations have been studied and published, a figure that keeps increasing, especially with the recent explosion of array-based Genome-Wide Association Studies. Even if the number of true associations described so far is high, many of the putative risk variants detected so far have failed to be consistently replicated and are widely considered false positives. Here, we focus on the world-wide patterns of replicability of published association studies. RESULTS: We report three main findings. First, contrary to previous results, genes associated to complex diseases present lower degrees of genetic differentiation among human populations than average genome-wide levels. Second, also contrary to previous results, the differences in replicability of disease associated-loci between Europeans and East Asians are highly correlated with genetic differentiation between these populations. Finally, highly replicated genes present increased levels of high-frequency derived alleles in European and Asian populations when compared to African populations. CONCLUSIONS: Our findings highlight the heterogeneous nature of the genetic etiology of complex disease, confirm the importance of the recent evolutionary history of our species in current patterns of disease susceptibility and could cast doubts on the status as false positives of some associations that have failed to replicate across populations. More... »

PAGES

55

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1471-2164-12-55

    DOI

    http://dx.doi.org/10.1186/1471-2164-12-55

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1029117001

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21261943


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