Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
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DOI：
10.1038/79876
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发表时间：
2000-10-01
期刊：
影响因子：
30.8
通讯作者：
Bell, GI
中科院分区：
文献类型：
--
作者：
Horikawa, Y;Oda, N;Bell, GI
2型或非胰岛素依赖型糖尿病（NIDDM）是世界范围内最常见的糖尿病形式，影响约4%的世界成年人口。它的起源是多因素的，遗传和环境因素都有助于其发展。在墨西哥裔美国人中进行的2型糖尿病基因的全基因组筛查定位了一个易感基因，命名为NIDDM 1，位于2号染色体上。在这里，我们描述了位于NIDDM 1区域的基因的定位克隆，该区域显示与墨西哥裔美国人和来自芬兰Botnia地区的北方欧洲人群的2型糖尿病相关。这种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的普遍表达的成员，钙蛋白酶-10（CAPN 10）。这一发现表明了一种新的途径，可能有助于2型糖尿病的发展。
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.