52531例糖尿病患者定量肾功能的全基因组关联研究鉴定出5个糖尿病特异性位点

IF 9.4 1区 医学 Q1 UROLOGY & NEPHROLOGY
Joanne B Cole, Emma H Dahlström, Damian Fermin, Yogesh Gupta, Claire Hill, Laura J Smyth, Hongbo Liu, Raymond J Kreienkamp, Marcus G Pezzolesi, Jing Jing Cao, Erkka Valo, Wei-Min Chen, Suna Onengut-Gumuscu, Stephen S Rich, Eoin P Brennan, Darrell Andrews, Ciarán Kennedy, Harvest F Gu, Lars Stechemesser, Raimund Weitgasser, Jelizaveta Sokolovska, Lina Radzeviciene, Rasa Verkauskiene, Nicolae M Panduru, Peter Rossing, Tarunveer S Ahluwalia, Gianpaolo Zerbini, Michel Marre, Samy Hadjadj, Tina Costacou, Rachel G Miller, Barbara E Klein, Kristine E Lee, Janet K Snell-Bergeon, Maria Luiza Caramori, Michael Mauer, Kerstin Brismar, Petter Bjornstad, Amy J McKnight, Gareth McKay, Viji Nair, Rany M Salem, Per-Henrik Groop, Catherine Godson, Katalin Susztak, Matthias Kretzler, Alexander P Maxwell, Andrzej Krolewski, Andrew Paterson, Niina Sandholm-Lafferre, Jose C Florez, Joel N Hirschhorn
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引用次数: 0

摘要

背景:糖尿病肾病(DKD)是一种由环境和遗传危险因素共同引起的严重糖尿病并发症。以前的全基因组关联研究(GWAS)已经确定了几个与普通人群肾功能和肾脏疾病相关的基因座,并且在较小程度上与糖尿病相关。方法:为了揭示驱动糖尿病诱导肾功能的遗传因素,我们对17,267名1型糖尿病患者和35,264名2型糖尿病患者(总共52,531人)的肾小球滤过率(eGFR)进行了一系列GWAS荟萃分析,利用多个特征明确的1型糖尿病DKD队列和来自英国生物银行和SUMMIT联盟的数据。我们进一步考虑了DKD病例/对照状态、糖尿病病程和亚型、体重指数、糖化血红蛋白水平以及eGFR和蛋白尿之间的关系。结果:GWAS鉴定出13个与eGFR相关的基因座(结论:我们的综合方法鉴定出与糖尿病对肾功能有特异性影响的候选基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci.
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来源期刊
Journal of The American Society of Nephrology
Journal of The American Society of Nephrology 医学-泌尿学与肾脏学
CiteScore
22.40
自引率
2.90%
发文量
492
审稿时长
3-8 weeks
期刊介绍: The Journal of the American Society of Nephrology (JASN) stands as the preeminent kidney journal globally, offering an exceptional synthesis of cutting-edge basic research, clinical epidemiology, meta-analysis, and relevant editorial content. Representing a comprehensive resource, JASN encompasses clinical research, editorials distilling key findings, perspectives, and timely reviews. Editorials are skillfully crafted to elucidate the essential insights of the parent article, while JASN actively encourages the submission of Letters to the Editor discussing recently published articles. The reviews featured in JASN are consistently erudite and comprehensive, providing thorough coverage of respective fields. Since its inception in July 1990, JASN has been a monthly publication. JASN publishes original research reports and editorial content across a spectrum of basic and clinical science relevant to the broad discipline of nephrology. Topics covered include renal cell biology, developmental biology of the kidney, genetics of kidney disease, cell and transport physiology, hemodynamics and vascular regulation, mechanisms of blood pressure regulation, renal immunology, kidney pathology, pathophysiology of kidney diseases, nephrolithiasis, clinical nephrology (including dialysis and transplantation), and hypertension. Furthermore, articles addressing healthcare policy and care delivery issues relevant to nephrology are warmly welcomed.
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