编码钙蛋白酶-10的基因中的遗传变异与2型糖尿病有关。

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.

作者信息

Horikawa Y, Oda N, Cox N J, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner T H, Mashima H, Schwarz P E, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky K S, Wei S, Concannon P, Iwasaki N, Schulze J, Baier L J, Bogardus C, Groop L, Boerwinkle E, Hanis C L, Bell G I

机构信息

Howard Hughes Medical Institute, The University of Chicago, Chicago, Illinois, USA.

出版信息

Nat Genet. 2000 Oct;26(2):163-75. doi: 10.1038/79876.

DOI:10.1038/79876

PMID:11017071

Abstract

Type 2 or non-insulin-dependent diabetes mellitus (NIDDM) is the most common form of diabetes worldwide, affecting approximately 4% of the world's adult population. It is multifactorial in origin with both genetic and environmental factors contributing to its development. A genome-wide screen for type 2 diabetes genes carried out in Mexican Americans localized a susceptibility gene, designated NIDDM1, to chromosome 2. Here we describe the positional cloning of a gene located in the NIDDM1 region that shows association with type 2 diabetes in Mexican Americans and a Northern European population from the Botnia region of Finland. This putative diabetes-susceptibility gene encodes a ubiquitously expressed member of the calpain-like cysteine protease family, calpain-10 (CAPN10). This finding suggests a novel pathway that may contribute to the development of type 2 diabetes.

摘要

2型或非胰岛素依赖型糖尿病（NIDDM）是全球最常见的糖尿病类型，约占全球成年人口的4%。其发病具有多因素性，遗传和环境因素均对其发展起作用。在墨西哥裔美国人中进行的一项2型糖尿病基因全基因组筛查将一个名为NIDDM1的易感基因定位到了2号染色体上。在此，我们描述了位于NIDDM1区域的一个基因的定位克隆，该基因在墨西哥裔美国人和来自芬兰博特尼亚地区的北欧人群中与2型糖尿病相关。这个假定的糖尿病易感基因编码钙蛋白酶样半胱氨酸蛋白酶家族中一种普遍表达的成员——钙蛋白酶10（CAPN10）。这一发现提示了一条可能导致2型糖尿病发展的新途径。