载脂蛋白L1肾脏风险等位基因：群体遗传学与疾病关联
APOL1 kidney risk alleles: population genetics and disease associations.
作者信息
Limou Sophie, Nelson George W, Kopp Jeffrey B, Winkler Cheryl A
机构信息
Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc., Frederick National Laboratory, Frederick, MD; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.
Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc., Frederick National Laboratory, Frederick, MD; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.
出版信息
Adv Chronic Kidney Dis. 2014 Sep;21(5):426-33. doi: 10.1053/j.ackd.2014.06.005.
APOL1 kidney disease is a unique case in the field of the genetics of common disease: 2 variants (termed G1 and G2) with high population frequency have been repeatedly associated with nondiabetic CKDs, with very strong effect size (odds ratios 3-29) in populations of sub-Saharan African descent. This review provides an update on the spectrum of APOL1 kidney disease and on the worldwide distribution of these kidney risk variants. We also summarize the proper way to run a recessive analysis on joint and independent effects of APOL1 G1 and G2 kidney risk variants.
载脂蛋白L1（APOL1）肾病是常见疾病遗传学领域的一个独特案例：两种在人群中频率较高的变异体（称为G1和G2）反复与非糖尿病慢性肾脏病相关联，在撒哈拉以南非洲裔人群中具有非常强的效应大小（比值比为3 - 29）。本综述提供了关于APOL1肾病谱以及这些肾脏风险变异体全球分布的最新情况。我们还总结了对APOL1 G1和G2肾脏风险变异体的联合和独立效应进行隐性分析的正确方法。
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