Genetic Variation in the Gene Encoding calpain-10 Is Associated With Type 2 Diabetes Mellitus

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

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

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

Substances

  • Genetic Markers
  • Calpain
  • calpain 10

Associated data

  • GENBANK/AF089087
  • GENBANK/AF089088
  • GENBANK/AF089089
  • GENBANK/AF089090
  • GENBANK/AF089091
  • GENBANK/AF089092
  • GENBANK/AF089093
  • GENBANK/AF089094
  • GENBANK/AF089095
  • GENBANK/AF089096
  • GENBANK/AF158748
  • GENBANK/AF200349
  • GENBANK/AF300795