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.

Nature genetics (2000-10-04)

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

PMID11017071

摘要

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.