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在日本人群中,基于临床定义的痛风的肾过载类型和肾排泄不足类型的全基因组荟萃分析。

Genome-wide meta-analysis between renal overload type and renal underexcretion type of clinically defined gout in Japanese populations.

机构信息

Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan.

Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Aichi, Japan.

出版信息

Mol Genet Metab. 2022 Jul;136(3):186-189. doi: 10.1016/j.ymgme.2022.01.100. Epub 2022 Jan 31.

Abstract

Despite progress in understanding of the genetic basis of gout, the precise factors affecting differences in gout susceptibility among different gout subtypes remain unclear. Using clinically diagnosed gout patients, we conducted a genome-wide meta-analysis of two distinct gout subtypes: the renal overload type and the renal underexcretion type. We provide genetic evidence at a genome-wide level of significance that supports a positive association between ABCG2 dysfunction and acquisition of the renal overload type.

摘要

尽管人们在理解痛风的遗传基础方面取得了进展,但影响不同痛风亚型易感性差异的确切因素仍不清楚。本研究使用临床诊断的痛风患者,对两种不同的痛风亚型(肾脏过载型和肾脏排泄不足型)进行了全基因组荟萃分析。本研究提供了全基因组水平上的遗传证据,支持 ABCG2 功能障碍与肾脏过载型获得之间存在正相关。

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