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Type 2 diabetes candidate gene CAPN10: first, but not last.

Ridderstråle, Martin LU and Nilsson, Emma LU (2008) In Current Hypertension Reports 10(1). p.19-24
Abstract
CAPN10, which encodes the cysteine protease calpain 10, was the first type 2 diabetes mellitus (T2DM) susceptibility gene identified through a genome-wide scan followed by positional cloning. A haplotype combination comprising three intronic CAPN10 single-nucleotide polymorphisms (UCSNP-43, -19, and -63) was associated with increased risk of T2DM in the population in which linkage was first found. Follow-up studies have been published from a wide range of populations; some confirm the original finding, but some do not. The exact function of calpain 10 remains to be determined, but it has been implicated both in glucose transporter 4 translocation to the cell membrane, regulation of pancreatic insulin secretion, and pancreatic beta-cell... (More)
CAPN10, which encodes the cysteine protease calpain 10, was the first type 2 diabetes mellitus (T2DM) susceptibility gene identified through a genome-wide scan followed by positional cloning. A haplotype combination comprising three intronic CAPN10 single-nucleotide polymorphisms (UCSNP-43, -19, and -63) was associated with increased risk of T2DM in the population in which linkage was first found. Follow-up studies have been published from a wide range of populations; some confirm the original finding, but some do not. The exact function of calpain 10 remains to be determined, but it has been implicated both in glucose transporter 4 translocation to the cell membrane, regulation of pancreatic insulin secretion, and pancreatic beta-cell apoptosis. This article reviews the genetic evidence for the association between CAPN10 and T2DM. The latest understanding of the biologic function of calpain 10 is discussed, along with results from recent genome-wide association studies that have failed to put CAPN10 among the top signals. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Current Hypertension Reports
volume
10
issue
1
pages
19 - 24
publisher
Current Medicine Group LLC
external identifiers
  • pmid:18367022
  • wos:000253028300005
  • scopus:33646073401
ISSN
1534-3111
DOI
10.1016/j.ecl.2006.02.008
language
English
LU publication?
yes
id
421b4c03-ad80-4763-8e6b-6b432b37fe9c (old id 1052145)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18367022?dopt=Abstract
date added to LUP
2008-04-02 16:47:10
date last changed
2017-08-06 04:47:45
@article{421b4c03-ad80-4763-8e6b-6b432b37fe9c,
  abstract     = {CAPN10, which encodes the cysteine protease calpain 10, was the first type 2 diabetes mellitus (T2DM) susceptibility gene identified through a genome-wide scan followed by positional cloning. A haplotype combination comprising three intronic CAPN10 single-nucleotide polymorphisms (UCSNP-43, -19, and -63) was associated with increased risk of T2DM in the population in which linkage was first found. Follow-up studies have been published from a wide range of populations; some confirm the original finding, but some do not. The exact function of calpain 10 remains to be determined, but it has been implicated both in glucose transporter 4 translocation to the cell membrane, regulation of pancreatic insulin secretion, and pancreatic beta-cell apoptosis. This article reviews the genetic evidence for the association between CAPN10 and T2DM. The latest understanding of the biologic function of calpain 10 is discussed, along with results from recent genome-wide association studies that have failed to put CAPN10 among the top signals.},
  author       = {Ridderstråle, Martin and Nilsson, Emma},
  issn         = {1534-3111},
  language     = {eng},
  number       = {1},
  pages        = {19--24},
  publisher    = {Current Medicine Group LLC},
  series       = {Current Hypertension Reports},
  title        = {Type 2 diabetes candidate gene CAPN10: first, but not last.},
  url          = {http://dx.doi.org/10.1016/j.ecl.2006.02.008},
  volume       = {10},
  year         = {2008},
}