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

Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI
Nat Genet. 2000 26 (2): 163-75

PMID: 11017071 · DOI:10.1038/79876

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.

MeSH Terms (20)

Adult Amino Acid Sequence Calpain Chromosome Mapping Chromosomes, Human, Pair 2 Diabetes Mellitus, Type 2 European Continental Ancestry Group Finland Gene Frequency Genetic Markers Genetic Predisposition to Disease Genetic Variation Genome, Human Haplotypes Humans Mexican Americans Molecular Sequence Data Polymorphism, Genetic Risk Assessment United States

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