Co-existence of risk and protective haplotypes of Calpain 10 gene to type 2 diabetes in the eastern Indian population

被引：18

作者：

Adak, Sangeeta ^{[1
]}

Sengupta, Sanghamitra ^{[1
]}

Chowdhury, Subhankar

Bhattacharyya, Maitree ^{[1
]}

机构：

[1] Univ Calcutta, Dept Biochem, Kolkata 700019, India

来源：

DIABETES & VASCULAR DISEASE RESEARCH | 2010年 / 7卷 / 01期

关键词：

type; 2; diabetes; Calpain; 10; single nucleotide polymorphisms; association study; haplotypes; eastern India; GLUCOSE-TOLERANCE; VARIANTS; MELLITUS; POLYMORPHISMS; ASSOCIATION; PROJECTIONS; PREVALENCE; TCF7L2; IMPACT;

D O I：

10.1177/1479164109351370

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Linkage and association studies have detected a role for Calpain-10 (CAPN10) polymorphisms in susceptibility to T2DM in many populations. This study aimed to evaluate possible associations between three SNPs in the CAPN10 (UCSNPs -43, -19 and -63) gene and T2DM in the east Indian population. The distribution of genotype frequency of UCSNP-63 varied significantly between T2DM patients and controls under a dominant model. The uncommon (T) allele (OR = 3.74, 95% CI: 1.44-9.7) of the UCSNP-63 and haplotype 112 (OR = 3.4, 95% CI: 1.17-9.9) were associated with increased risk of T2DM. On the contrary, the most common haplotype 121 (OR = 0.70 95% CI: 0.50-0.99) was associated with a reduced risk for T2DM. In our population a novel 111/112-haplotype combination created by the CAPN10 UCSNP-43, -19 and -63 was associated with risk of T2DM. Haplotypes 112 and 121 with opposite genetic influences also co-exist in our population.

引用

页码：63 / 68

页数：6

共 20 条

[1] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[2]

Bid Hemant Kumar, 2008, Indian J Med Sci, V62, P259

[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] PATHOGENESIS OF NIDDM - A BALANCED OVERVIEW [J].

DEFRONZO, RA ;

BONADONNA, RC ;

FERRANNINI, E .

DIABETES CARE, 1992, 15 (03) :318-368

[5] 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

[6] 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

[7] Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes [J].

Gloyn, AL ;

Weedon, MN ;

Owen, KR ;

Turner, MJ ;

Knight, BA ;

Hitman, G ;

Walker, M ;

Levy, JC ;

Sampson, M ;

Halford, S ;

McCarthy, MI ;

Hattersley, AT ;

Frayling, TM .

DIABETES, 2003, 52 (02) :568-572

[8] Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus [J].

Horikawa, Y ;

Oda, N ;

Cox, NJ ;

Li, XQ ;

Orho-Melander, M ;

Hara, M ;

Hinokio, Y ;

Lindner, TH ;

Mashima, H ;

Schwarz, PEH ;

del Bosque-Plata, L ;

Horikawa, Y ;

Oda, Y ;

Yoshiuchi, I ;

Colilla, S ;

Polonsky, KS ;

Wei, S ;

Concannon, P ;

Iwasaki, N ;

Schulze, T ;

Baier, LJ ;

Bogardus, C ;

Groop, L ;

Boerwinkle, E ;

Hanis, CL ;

Bell, GI .

NATURE GENETICS, 2000, 26 (02) :163-175

[9] Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population [J].

Iwasaki, N ;

Horikawa, Y ;

Tsuchiya, T ;

Kitamura, Y ;

Nakamura, T ;

Tanizawa, Y ;

Oka, Y ;

Hara, K ;

Kadowaki, T ;

Awata, T ;

Honda, M ;

Yamashita, K ;

Oda, N ;

Yu, L ;

Yamada, N ;

Ogata, M ;

Kamatani, N ;

Iwamoto, Y ;

del Bosque-Plata, L ;

Hayes, MG ;

Cox, NJ ;

Bell, GI .

JOURNAL OF HUMAN GENETICS, 2005, 50 (02) :92-98

[10] A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes [J].

Kang, Eun Seok ;

Kim, Hye Joo ;

Nam, Moonsuk ;

Nam, Chung Mo ;

Ahn, Chul Woo ;

Cha, Bong Soo ;

Lee, Hyun Chul .

JOURNAL OF HUMAN GENETICS, 2006, 51 (07) :629-633

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