Linkage of calpain 10 to type 2 diabetes - The biological rationale

被引:59
作者
Cox, NJ
Hayes, MG
Roe, CA
Tsuchiya, T
Bell, GI
机构
[1] Univ Chicago, Dept Biochem & Mol Biol, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Med, Chicago, IL 60637 USA
[3] Univ Chicago, Dept Biochem & Mol Biol, Chicago, IL 60637 USA
关键词
D O I
10.2337/diabetes.53.2007.S19
中图分类号
R5 [内科学];
学科分类号
1002 [临床医学]; 100201 [内科学];
摘要
The follow-up studies to the original report of association of variation at calpain 10 (CAPN10) with type 2 diabetes in the Mexican-American population of Starr County, Texas, encompass a broad range of science. There are association studies on genetic variation at CAPN10 in different human populations over a range of phenotypes related to type 2 diabetes, physiological studies on the biological functions of calpain proteases, and evolutionary studies on CAPN10 and the NIDDM1 region. We review here the studies published to date on CAPN10, as well as the latest findings from positional cloning studies on a number of other complex disorders. Collectively, these studies provide perspective on the challenges of moving from the linkage mapping and positional cloning studies on which we have been focused to an understanding of the biology shaping the relationship of genotype to phenotype at loci influencing susceptibility to complex disorders like type 2 dia betes. Diabetes 53 (Suppl. 1):S19-S25, 2004.
引用
收藏
页码:S19 / S25
页数:7
相关论文
共 43 条
[1]
A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance [J].
Baier, LJ ;
Permana, PA ;
Yang, XL ;
Pratley, RE ;
Hanson, RL ;
Shen, GQ ;
Mott, D ;
Knowler, WC ;
Cox, NJ ;
Horikawa, Y ;
Oda, N ;
Bell, GI ;
Bogardus, C .
JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (07) :R69-R73
[2]
Phylogenetic shadowing of primate sequences to find functional regions of the human genome [J].
Boffelli, D ;
McAuliffe, J ;
Ovcharenko, D ;
Lewis, KD ;
Ovcharenko, I ;
Pachter, L ;
Rubin, EM .
SCIENCE, 2003, 299 (5611) :1391-1394
[3]
Haplotype combinations of calpain 10 gene polymorphisms associate with increased risk of impaired glucose tolerance and type 2 diabetes in South Indians [J].
Cassell, PG ;
Jackson, AE ;
North, BV ;
Evans, JC ;
Syndercombe-Court, D ;
Phillips, C ;
Ramachandran, A ;
Snehalatha, C ;
Gelding, SV ;
Vijayaravaghan, S ;
Curtis, D ;
Hitman, GA .
DIABETES, 2002, 51 (05) :1622-1628
[4]
Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese [J].
Daimon, M ;
Oizumi, T ;
Saitoh, T ;
Kameda, W ;
Yamaguchi, H ;
Ohnuma, H ;
Igarashi, M ;
Manaka, H ;
Kato, T .
DIABETES RESEARCH AND CLINICAL PRACTICE, 2002, 56 (02) :147-152
[5]
Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome [J].
Ehrmann, DA ;
Schwarz, PEH ;
Hara, M ;
Tang, X ;
Horikawa, Y ;
Imperial, J ;
Bell, GI ;
Cox, NJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (04) :1669-1673
[6]
Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians [J].
Elbein, SC ;
Chu, W ;
Ren, QF ;
Hemphill, C ;
Schay, J ;
Cox, NJ ;
Hanis, CL ;
Hasstedt, SJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (02) :650-654
[7]
Common single nucleotide polymorphisms in intron 3 of the calpain-10 gene influence hirsutism [J].
Escobar-Morreale, HF ;
Peral, B ;
Villuendas, G ;
Calvo, RM ;
Sancho, J ;
San Millán, JL .
FERTILITY AND STERILITY, 2002, 77 (03) :581-587
[8]
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom [J].
Evans, JC ;
Frayling, TM ;
Cassell, PG ;
Saker, PJ ;
Hitman, GA ;
Walker, M ;
Levy, JC ;
O'Rahilly, S ;
Rao, PVS ;
Bennett, AJ ;
Jones, EC ;
Menzel, S ;
Prestwich, P ;
Simecek, N ;
Wishart, M ;
Dhillon, R ;
Fletcher, C ;
Millward, A ;
Demaine, A ;
Wilkin, T ;
Horikawa, Y ;
Cox, NJ ;
Bell, GI ;
Ellard, S ;
McCarthy, MI ;
Hattersley, AT .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (03) :544-552
[9]
Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort [J].
Fingerlin, TE ;
Erdos, MR ;
Watanabe, RM ;
Wiles, KR ;
Stringham, HM ;
Mohlke, KL ;
Silander, K ;
Valle, TT ;
Buchanan, TA ;
Tuomilehto, J ;
Bergman, RN ;
Boehnke, M ;
Collins, FS .
DIABETES, 2002, 51 (05) :1644-1648
[10]
Geographic and haplotype structure of candidate type 2 diabetes-susceptibility variants at the calpain-10 locus [J].
Fullerton, SM ;
Bartoszewicz, A ;
Ybazeta, G ;
Horikawa, Y ;
Bell, GI ;
Kidd, KK ;
Cox, NJ ;
Hudson, RR ;
Di Rienzo, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1096-1106