APOL1 variants and kidney disease in people of recent African ancestry
APOL1 variants and kidney disease in people of recent African ancestry
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DOI：
10.1038/nrneph.2013.34
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发表时间：
2013-04-01
影响因子：
41.5
通讯作者：
Pollak, Martin R.
中科院分区：
文献类型：
--
作者：
Genovese, Giulio;Friedman, David J.;Pollak, Martin R.
APOL1 基因内的编码变异与肾脏疾病有关，这解释了之前归因于邻近 MYH9 基因内的变异的关联。为了更好地确定 APOL1 在导致非洲血统个体肾脏疾病中的作用，我们从千人基因组计划的角度对 APOL1 基因周围区域的常见变异进行了广泛的调查。通过排除论证，可以合理地得出结论：假定的 APOL1 因果变异不能代表任何其他在肾脏疾病中具有更直接作用的变异。我们的统计论证在一定程度上是由于 APOL1 编码变体的异常年轻以及围绕该基因的异常高的基因重组率而得以实现。尽管目前尚无 APOL1 变异与肾脏疾病因果关系的生物学证据，但我们的统计推理为因果关系提供了强有力的案例，并为未来功能研究提供了一个目标区域。吉诺维斯，G.等人。纳特。尼弗罗尔牧师。 9、240-244（2013）； 2013 年 2 月 26 日在线发布； doi:10.1038/nrneph.2013.34
Coding variants within the APOL1 gene have been associated with kidney disease, explaining an association that was previously attributed to variants within the neighbouring MYH9 gene. To better define the role of APOL1 in causing kidney disease in individuals of African ancestry, we performed an extensive survey of the common variation in the region surrounding the APOL1 gene, as seen through the lens of the 1000 Genomes Project. Arguing by exclusion, it is reasonable to conclude that the putative APOL1 causal variants are not proxies for any other variants with more direct roles in kidney disease. Our statistical argument is in part made possible by the exceptionally young age of the APOL1 coding variants coupled with the unusually high rate of genetic recombination surrounding this gene. Although no biological evidence currently exists for the causality of APOL1 variants with kidney disease, our statistical reasoning provides a strong case for causality, and a region to target in future functional studies. Genovese, G. et al. Nat. Rev. Nephrol. 9, 240-244 (2013); published online 26 February 2013; doi:10.1038/nrneph.2013.34