title: Variants of calpain-10 gene and its association with type 2 diabetes mellitus in a Chinese population.
abstract: Variants of calpain-10 gene (CAPN 10) have recently been reported to be associated with type 2 diabetes (T2DM). Haplotype combination 112/121 defined by three single nucleotide polymorphisms (SNPs) (UCSNP-43, -19 and -63) of CAPN 10 conferred the highest risk for T2DM in Mexican-Americans. In this study, we aim to examine whether these genetic variants contribute to the susceptibility for T2DM in a Chinese population. The frequencies of these three SNPs were determined in 168 patients with T2DM and 104 controls. Distribution of alleles, genotypes and haplotypes at three loci were not significantly different between the two groups. No difference was observed in the 112/121 haplotype combination distribution. However, haplotype combination 112/221 was more prevalent in the control group than in T2DM group (16.35% versus 7.14%, p = 0.025). Control subjects with haplotype combination 112/121 had higher serum cholesterol level than others without haplotype combination 112/121 (5.7 +/- 1.4 versus 5.2 +/- 0.7, p = 0.011). Our results suggest that haplotype combination 112/221 associated with reduced risk for T2DM and haplotype combination 112/121 might be a risk factor for increased serum cholesterol in Chinese population.
authors.affiliation: Division of Health Sciences, Kobe University Graduate School of Medicine, Room A203, 10-2, Tomogaoka 7-Chome Suma-Ku Kobe, Kobe 6540142, Japan. davidwu@maia.eonet.ne.jp
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
authors.forename: Juro
authors.initials: J
authors.lastname: Takahashi
authors.forename: Mao
authors.initials: M
authors.lastname: Fu
authors.forename: Hua
authors.initials: H
authors.lastname: Cheng
authors.forename: Sueo
authors.initials: S
authors.lastname: Matsumura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Taniguchi
mesh_terms: D044466:Asian People / Q000235:genetics*; D002154:Calpain / Q000235:genetics*; D002681:China / Q000453:epidemiology; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000209:etiology; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D002154:Calpain; C415197:calpain 10