Recent human evolution has shaped geographical differences in susceptibility to disease
| العنوان: | Recent human evolution has shaped geographical differences in susceptibility to disease |
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| المؤلفون: | François Serra, Jaume Bertranpetit, Arcadi Navarro, Urko M. Marigorta, Hernán Dopazo, Ferran Casals, Rui Faria, Francesc Calafell, Carlos Morcillo-Suarez, Elena Bosch, Oscar Lao |
| المساهمون: | Universidad Pompeu Fabra, Ministerio de Ciencia e Innovación (España), Instituto Nacional de Bioinformática (España) |
| المصدر: | Digital.CSIC. Repositorio Institucional del CSIC instname BMC Genomics BMC Genomics, Vol 12, Iss 1, p 55 (2011) BMC GENOMICS r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF) Centro de Investigación Principe Felipe (CIPF) r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF) Recercat. Dipósit de la Recerca de Catalunya |
| بيانات النشر: | BioMed Central, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | lcsh:QH426-470, lcsh:Biotechnology, Single-nucleotide polymorphism, Genome-wide association study, Disease, Evolució humana, Biology, Genoma humà, White People, Genètica mèdica, Asian People, lcsh:TP248.13-248.65, Genetic variation, Genetics, False positive paradox, Humans, Genetic Predisposition to Disease, Genetic variability, Allele, Genetic association, Genome, Human, Genetic Variation, Biological Evolution, lcsh:Genetics, Biotechnology, Research Article, Genome-Wide Association Study |
| الوصف: | 14 páginas, 3 figuras, 3 tablas. [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 worldwide 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. Urko M. Marigorta is supported by a PhD fellowship from Universitat Pompeu Fabra. This work was partially supported by a grant to AN from the Ministerio de Ciencia e Innovación (Spain, BFU2006 15413-C02-01) and by the National Institute of Bioinformatics http://www.inab.org, a platform of Genoma España. |
| وصف الملف: | application/pdf |
| تدمد: | 1471-2164 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb641a1b993d895b8f68ce16d187a56b http://hdl.handle.net/10261/32965 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....bb641a1b993d895b8f68ce16d187a56b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712164 |
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