初步报告：APOL基因家族中的错义突变与先前归因于MYH9基因的终末期肾病风险相关
Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene
摘要：
MYH9已被认为是非糖尿病终末期肾病（ESKD）的主要遗传风险位点。我们使用最近发布的序列从1000基因组计划，以确定两个西非特定的错义突变（S342G和I384M）在相邻的APOL1基因，并证明这些更强烈地与ESKD比以前报道的MYH9变体。我们还表明，这些风险变异在非洲人群中的分布与先前归因于MYH9基因的非洲血统ESKD风险模式一致。在APOL基因家族的其他成员中也发现了其他相关性，我们认为ESKD风险是由APOL基因家族成员中的西非变体引起的，APOL基因家族成员进化为保护免受病原体如锥虫的侵害。
英文摘要：
MYH9 has been proposed as a major genetic risk locus for a spectrum of non-diabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African specific missense mutations (S342G and I384M) in the neighbouring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. We also show that the distribution of these risk variants in African populations is consistent with the pattern of African ancestry ESKD risk previously attributed to the MYH9 gene. Additional associations were also found among other members of the APOL gene family, and we propose that ESKD risk is caused by western African variants in members of the APOL gene family, which evolved to confer protection against pathogens, such as Trypanosoma.
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