Document Detail


Type 2 diabetes candidate gene CAPN10: first, but not last.
MedLine Citation:
PMID:  18367022     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Martin Ridderstråle; Emma Nilsson
Publication Detail:
Type:  Journal Article; Meta-Analysis    
Journal Detail:
Title:  Current hypertension reports     Volume:  10     ISSN:  1534-3111     ISO Abbreviation:  Curr. Hypertens. Rep.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-03-27     Completed Date:  2008-05-06     Revised Date:  2008-06-20    
Medline Journal Info:
Nlm Unique ID:  100888982     Medline TA:  Curr Hypertens Rep     Country:  United States    
Other Details:
Languages:  eng     Pagination:  19-24     Citation Subset:  IM    
Affiliation:
Department of Clinical Sciences, Clinical Obesity, Malmö University Hospital, Lund University, S-205 02, Malmö, Sweden. martin.ridderstrale@med.lu.se
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MeSH Terms
Descriptor/Qualifier:
Apoptosis
Calpain / genetics*
Diabetes Mellitus, Type 2 / genetics*,  metabolism,  pathology
Genetic Predisposition to Disease
Glucose Transporter Type 4 / genetics
Haplotypes
Humans
Insulin / secretion
Insulin-Secreting Cells / pathology
Polymorphism, Single Nucleotide*
Translocation, Genetic
Chemical
Reg. No./Substance:
0/Glucose Transporter Type 4; 11061-68-0/Insulin; EC 3.4.22.-/Calpain; EC 3.4.22.-/calpain 10

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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