APOL1 variants and kidney disease in people of recent African ancestry.

作者: Giulio Genovese , David J. Friedman , Martin R. Pollak

DOI: 10.1038/NRNEPH.2013.34

关键词: Allele frequencyGeneApolipoprotein L1GeneticsCommon disease-common variantKidney disease1000 Genomes ProjectLinkage disequilibriumGenetic variationBiology

摘要: Coding variants within the APOL1 gene have been associated with kidney disease, explaining an association that was previously attributed to neighbouring MYH9 gene. To better define role of in causing disease individuals African ancestry, we performed extensive survey common variation region surrounding gene, as seen through lens 1000 Genomes Project. Arguing by exclusion, it is reasonable conclude putative causal are not proxies for any other more direct roles disease. Our statistical argument part made possible exceptionally young age coding coupled unusually high rate genetic recombination this Although no biological evidence currently exists causality our reasoning provides a strong case causality, and target future functional studies.

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