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2型糖尿病(type 2 diabetes,T2D)是一种常见的复杂疾病,其发病受到遗传和环境因素的共同作用.全基因组关联研究(genome-wide association study,GWAS)是一种可在全基因组范围筛查疾病相关的序列变异的新型群体关联研究方法.近年来,采用GWAS以及在此基础上展开的meta分析,已分别在TCF7L2、HHEX-IDE、SLC30A8、CDKAL1、CDKN2A-CDKN2B、IGF2BP2、NOTCH2、CDC123-CAMK1D、ADAMTS9、THADA、TSPAN8-LGR5、JAZF1等12个基因区域鉴定出多个T2D相关的多态位点.已有的研究提示,上述多个基因可能在胰岛β细胞发育和功能维持方面扮演着重要角色.本文集中介绍了GWAS的原理及其在T2D研究中的优势;回顾了GWAS在T2D研究中的主要发现;并对运用GWAS在T2D研究中尚需解决的问题进行了总结和展望.
Type 2 diabetes (T2D) is a common and complex disease whose onset is affected by both genetic and environmental factors. The genome-wide association study (GWAS) In recent years, using GWAS and the meta-analysis based on this have been carried out in TCF7L2, HHEX-IDE, SLC30A8, CDKAL1, CDKN2A-CDKN2B, IGF2BP2, NOTCH2, CDC123-CAMK1D, ADAMTS9, THADA, TSPAN8-LGR5, JAZF1 and other 12 gene regions identified multiple T2D-related polymorphic sites.Previous studies suggest that the above-mentioned multiple genes may be in the islet β-cell development and function maintenance Plays an important role.This paper focuses on the principle of GWAS and its advantages in the study of T2D; reviews the main findings of GWAS in T2D; and summarizes and prospects the problems to be solved in the study of T2D by GWAS .