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[2型糖尿病的全基因组关联研究及其临床应用]

[Genome-wide association in type 2 diabetes and its clinical application].

作者信息

Esparza-Castro Dagoberto, Andrade-Ancira Francisco Javier, Merelo-Arias Carlos Adrián, Cruz Miguel, Valladares-Salgado Adán

机构信息

Unidad de Investigación Médica en Bioquímica, Coordinación de Investigación en Salud, Instituto Mexicano del Seguro Social, Distrito Federal, México.

出版信息

Rev Med Inst Mex Seguro Soc. 2015 Sep-Oct;53(5):592-9.

Abstract

Diabetes mellitus is a complex and chronical disease, which represents one of the biggest health issues the world, with alarming numbers and constantly increasing it demands the creation of new diagnostic, therapeutic and preventive techniques. The complete Genome Wide Association (GWA) in type 2 diabetes (T2D) is a useful research tool for the characterization of genetic markers and physiopathogenic pathways, with potential clinical utility either as a T2D risk prediction or its complications. In Mexico is necessary to make a comprehensive dissection of the genetic background of T2D by the complex genetic mosaic of our population and increase the knowledge of the molecular and pathophysiological mechanisms that lead to this condition. There are several genetic studies for the Mexican population, linked to the 1000 genomes project, which have led to define some specific genetic markers for our population which are not described in European populations, until the moment, 78 loci have been associated with T2D. Recently in the global meta-analysis, with the participation of Mexico, we demonstrated at least 7 new variants associated with T2D.

摘要

糖尿病是一种复杂的慢性疾病,它是全球最大的健康问题之一,其惊人的患病人数且持续增加,这就需要研发新的诊断、治疗和预防技术。2型糖尿病(T2D)的全基因组关联研究(GWA)是一种用于鉴定遗传标记和生理致病途径的有用研究工具,在预测T2D风险或其并发症方面具有潜在临床应用价值。在墨西哥,鉴于我们人群复杂的遗传多样性,有必要全面剖析T2D的遗传背景,并增进对导致该疾病的分子和病理生理机制的了解。有几项针对墨西哥人群的遗传研究与千人基因组计划相关联,这些研究已确定了一些我们人群特有的遗传标记,而这些标记在欧洲人群中尚未有描述,截至目前,已有78个基因座与T2D相关联。最近在有墨西哥参与的全球荟萃分析中,我们发现了至少7个与T2D相关的新变异。

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