Laboratory for Statistical Analysis, Center for Genomic Medicine (CGM), RIKEN, Yokohama, Japan.
Nat Genet. 2012 Jul 15;44(8):904-9. doi: 10.1038/ng.2352.
Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide association studies for kidney function-related traits, including 71,149 east Asian individuals from 18 studies in 11 population-, hospital- or family-based cohorts, conducted as part of the Asian Genetic Epidemiology Network (AGEN). Our meta-analysis identified 17 loci newly associated with kidney function-related traits, including the concentrations of blood urea nitrogen, uric acid and serum creatinine and estimated glomerular filtration rate based on serum creatinine levels (eGFRcrea) (P < 5.0 × 10(-8)). We further examined these loci with in silico replication in individuals of European ancestry from the KidneyGen, CKDGen and GUGC consortia, including a combined total of ∼110,347 individuals. We identify pleiotropic associations among these loci with kidney function-related traits and risk of CKD. These findings provide new insights into the genetics of kidney function.
慢性肾脏病（CKD），即肾功能损害，是一个严重的公共卫生问题，评估影响肾功能的遗传因素具有重要的临床意义。在这里，我们报告了一项针对肾功能相关特征的全基因组关联研究的荟萃分析，包括来自亚洲遗传流行病学网络（AGEN）的 18 项研究中 11 个人群、医院或基于家庭的队列中的 71149 名东亚个体。我们的荟萃分析确定了 17 个与肾功能相关特征新关联的位点，包括血液尿素氮、尿酸和血清肌酐浓度以及基于血清肌酐水平估计的肾小球滤过率（eGFRcrea）（P < 5.0×10(-8)）。我们进一步使用来自 KidneyGen、CKDGen 和 GUGC 联盟的欧洲血统个体进行了这些位点的计算复制，包括总共约 110347 名个体。我们在这些与肾功能相关特征和 CKD 风险的位点之间发现了多效性关联。这些发现为肾功能遗传学提供了新的见解。
