Literature DB >> 12643138

Calpain 10 and genetics of type 2 diabetes.

Nancy J Cox1.   

Abstract

Positional cloning studies conducted on a region of chromosome 2q providing evidence for linkage to type 2 diabetes implicated genetic variation at the calpain-10 gene (CAPN10) in susceptibility to type 2 diabetes. The variants identified in these studies are located in introns, rather than in coding sequence. It was proposed that the cumulative effects of a combination of variants, rather than variation at a single site, increase the risk of type 2 diabetes. Confirmation of the hypothesis that non-coding sequence variation in CAPN10 affects susceptibility to type 2 diabetes has implications for how we search for susceptibility variants and interpret results of positional cloning studies for complex disorders, and suggests a new pathway in glucose homeostasis. We review the results of follow-up studies on the CAPN10 finding, and consider the issues inherent in conclusively establishing that particular genetic variation affects a complex phenotype.

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Year:  2002        PMID： 12643138     DOI： 10.1007/s11892-002-0079-1

Source DB:  PubMed          Journal:  Curr Diab Rep        ISSN： 1534-4827            Impact factor:   4.810


  19 in total

1.  Reduced skeletal muscle calpain-10 transcript level is due to a cumulative decrease in major isoforms.

Authors:  X Yang; R E Pratley; L J Baier; Y Horikawa; G I Bell; C Bogardus; P A Permana
Journal:  Mol Genet Metab       Date:  2001-05       Impact factor: 4.797

2.  Calpains play a role in insulin secretion and action.

Authors:  S K Sreenan; Y P Zhou; K Otani; P A Hansen; K P Currie; C Y Pan; J P Lee; D M Ostrega; W Pugh; Y Horikawa; N J Cox; C L Hanis; C F Burant; A P Fox; G I Bell; K S Polonsky
Journal:  Diabetes       Date:  2001-09       Impact factor: 9.461

3.  Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.

Authors:  J C Evans; T M Frayling; P G Cassell; P J Saker; G A Hitman; M Walker; J C Levy; S O'Rahilly; P V Rao; A J Bennett; E C Jones; S Menzel; P Prestwich; N Simecek; M Wishart; R Dhillon; C Fletcher; A Millward; A Demaine; T Wilkin; Y Horikawa; N J Cox; G I Bell; S Ellard; M I McCarthy; A T Hattersley
Journal:  Am J Hum Genet       Date:  2001-07-31       Impact factor: 11.025

Review 4.  Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene.

Authors:  N J Cox
Journal:  Hum Mol Genet       Date:  2001-10-01       Impact factor: 6.150

5.  A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance.

Authors:  L J Baier; P A Permana; X Yang; R E Pratley; R L Hanson; G Q Shen; D Mott; W C Knowler; N J Cox; Y Horikawa; N Oda; G I Bell; C Bogardus
Journal:  J Clin Invest       Date:  2000-10       Impact factor: 14.808

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

Authors:  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
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

7.  Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.

Authors:  David A Ehrmann; Peter E H Schwarz; Manami Hara; Xu Tang; Yukio Horikawa; Jacqueline Imperial; Graeme I Bell; Nancy J Cox
Journal:  J Clin Endocrinol Metab       Date:  2002-04       Impact factor: 5.958

8.  Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.

Authors:  Stephanie M Fullerton; Angelika Bartoszewicz; Gustavo Ybazeta; Yukio Horikawa; Graeme I Bell; Kenneth K Kidd; Nancy J Cox; Richard R Hudson; Anna Di Rienzo
Journal:  Am J Hum Genet       Date:  2002-03-12       Impact factor: 11.025

9.  Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians.

Authors:  Steven C Elbein; Winston Chu; Qianfang Ren; Chris Hemphill; John Schay; Nancy J Cox; Craig L Hanis; Sandra J Hasstedt
Journal:  J Clin Endocrinol Metab       Date:  2002-02       Impact factor: 5.958

10.  A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

Authors:  C L Hanis; E Boerwinkle; R Chakraborty; D L Ellsworth; P Concannon; B Stirling; V A Morrison; B Wapelhorst; R S Spielman; K J Gogolin-Ewens; J M Shepard; S R Williams; N Risch; D Hinds; N Iwasaki; M Ogata; Y Omori; C Petzold; H Rietzch; H E Schröder; J Schulze; N J Cox; S Menzel; V V Boriraj; X Chen; L R Lim; T Lindner; L E Mereu; Y Q Wang; K Xiang; K Yamagata; Y Yang; G I Bell
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330
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  4 in total

Review 1.  Genetics of diabetes.

Authors:  Richard B Horenstein; Alan R Shuldiner
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

Review 2.  Obesity and nutrient sensing TOR pathway in flies and vertebrates: Functional conservation of genetic mechanisms.

Authors:  Sean Oldham
Journal:  Trends Endocrinol Metab       Date:  2011-01-07       Impact factor: 12.015

3.  Characterization of endogenous and recombinant human calpain-10.

Authors:  Biao Dong; Rihe Liu
Journal:  Biochimie       Date:  2008-04-10       Impact factor: 4.079

4.  Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies.

Authors:  Yiqing Song; Tianhua Niu; JoAnn E Manson; David J Kwiatkowski; Simin Liu
Journal:  Am J Hum Genet       Date:  2004-01-13       Impact factor: 11.025
  4 in total

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