Calpain 10 and genetics of type 2 diabetes.

被引：14

作者：

Cox N.J. ^{[1
]}

机构：

[1] University of Chicago, Department of Human Genetics, 507H CLSC, 920 E. 58th Street, Chicago, 60637, IL

来源：

Current Diabetes Reports | 2002年 / 2卷 / 2期

关键词：

Susceptibility Allele; Calpain Inhibitor; Related Phenotype; Haplotype Combination; Extended Haplotype;

D O I：

10.1007/s11892-002-0079-1

中图分类号：

学科分类号：

摘要：

Positional cloning studies conducted on a region of chromosome 2q providing evidence for linkage to type 2 diabetes implicated genetic variation at the calpain-10 gene (CAPN10) in susceptibility to type 2 diabetes. The variants identified in these studies are located in introns, rather than in coding sequence. It was proposed that the cumulative effects of a combination of variants, rather than variation at a single site, increase the risk of type 2 diabetes. Confirmation of the hypothesis that non-coding sequence variation in CAPN10 affects susceptibility to type 2 diabetes has implications for how we search for susceptibility variants and interpret results of positional cloning studies for complex disorders, and suggests a new pathway in glucose homeostasis. We review the results of follow-up studies on the CAPN10 finding, and consider the issues inherent in conclusively establishing that particular genetic variation affects a complex phenotype.

引用

页码：186 / 190

页数：4

共 43 条

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