在歐美國家眾多研究機(jī)構(gòu)參與的一項大型人類基因組相關(guān)性研究項目中,，有關(guān)研究人員發(fā)現(xiàn)了13個影響腎功能并可能引發(fā)慢性腎臟病的易感基因。這一成果有助于深入了解腎功能慢性衰退的基因背景和改進(jìn)腎病治療,。
德國格賴夫斯瓦爾德大學(xué)日前發(fā)表公報說,，有關(guān)研究人員分析了全球6萬多被調(diào)查者的基因數(shù)據(jù),，并發(fā)現(xiàn)了這13個易感基因。雖然新發(fā)現(xiàn)的易感基因單個影響力并不大,，但一些“壞基因”組合起來就可能大大提高患慢性腎臟病的風(fēng)險,。不能及早發(fā)現(xiàn)這些風(fēng)險因素以及相關(guān)病情的后果是，基因攜帶者腎功能持續(xù)衰退并導(dǎo)致心血管并發(fā)癥,。而慢性腎臟病患者因心血管病早亡的風(fēng)險是正常人的10倍,。
格賴夫斯瓦爾德大學(xué)計劃就新發(fā)現(xiàn)的基因?qū)β阅I臟病的影響進(jìn)行深入研究，以便將來能為有關(guān)風(fēng)險人群提供個性化的診療,，避免某些人發(fā)病后發(fā)展到必須進(jìn)行人工透析或腎移植的程度,。
慢性腎臟病又稱慢性腎功能不全或慢性腎衰竭，發(fā)病后腎功能在幾個月或若干年間逐漸衰退,。大多數(shù)患者往往并不知道自己的病情,。(生物谷Bioon.com)
更多閱讀
Nature Cell Biology：脊髓缺陷易感基因
NEJM：確認(rèn)三個冠心病易感基因
Nature Genetics：全基因組關(guān)聯(lián)研究發(fā)現(xiàn)帕金森氏癥易感基因
高燒的GWAS——生物谷盤點(diǎn)2009
生物谷推薦原文出處：
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.
