在欧美国家众多研究机构参与的一项大型人类基因组相关性研究项目中，有关研究人员发现了13个影响肾功能并可能引发慢性肾脏病的易感基因。这一成果有助于深入了解肾功能慢性衰退的基因背景和改进肾病治疗。
德国格赖夫斯瓦尔德大学日前发表公报说，有关研究人员分析了全球6万多被调查者的基因数据，并发现了这13个易感基因。虽然新发现的易感基因单个影响力并不大，但一些“坏基因”组合起来就可能大大提高患慢性肾脏病的风险。不能及早发现这些风险因素以及相关病情的后果是，基因携带者肾功能持续衰退并导致心血管并发症。而慢性肾脏病患者因心血管病早亡的风险是正常人的10倍。
格赖夫斯瓦尔德大学计划就新发现的基因对慢性肾脏病的影响进行深入研究，以便将来能为有关风险人群提供个性化的诊疗，避免某些人发病后发展到必须进行人工透析或肾移植的程度。
慢性肾脏病又称慢性肾功能不全或慢性肾衰竭，发病后肾功能在几个月或若干年间逐渐衰退。大多数患者往往并不知道自己的病情。(生物谷Bioon.com)
更多阅读
Nature Cell Biology：脊髓缺陷易感基因
NEJM：确认三个冠心病易感基因
Nature Genetics：全基因组关联研究发现帕金森氏症易感基因
高烧的GWAS——生物谷盘点2009
生物谷推荐原文出处：
Nature Genetics (2010) doi:10.1038/ng.568
New loci associated with kidney function and chronic kidney disease
Anna K?ttgen, Cristian Pattaro, Carsten A B?ger, Christian Fuchsberger, Matthias Olden, Nicole L Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V Smith, Jeffrey R O'Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C Cornelis et al.
Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea < 60 ml/min/1.73 m2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide–significant loci (P < 5 × 10?8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3). These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney.
