作者
Wen-Ya Ko, Prianka Rajan, Felicia Gomez, Laura Scheinfeldt, Ping An, Cheryl A Winkler, Alain Froment, Thomas B Nyambo, Sabah A Omar, Charles Wambebe, Alessia Ranciaro, Jibril B Hirbo, Sarah A Tishkoff
发表日期
2013/7/11
期刊
The American Journal of Human Genetics
卷号
93
期号
1
页码范围
54-66
出版商
Elsevier
简介
Disease susceptibility can arise as a consequence of adaptation to infectious disease. Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1. These two alleles appear to have arisen adaptively, possibly as a result of their protective effects against human African trypanosomiasis (HAT), or African sleeping sickness. In order to explore the distribution of potential functional variation at APOL1, we studied nucleotide variation in 187 individuals across ten geographically and genetically diverse African ethnic groups with exposure to two Trypanosoma brucei subspecies that cause HAT. We observed unusually high levels of nonsynonymous polymorphism in the regions encoding the functional domains that are …
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