title: A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes.
abstract: Genetic variations in the Calpain-10 gene, CAPN10, have been reported to be associated with the risk of type 2 diabetes mellitus (T2DM) in Mexican-Americans and Northern Europeans whereas these variations are not associated with T2DM in other populations. The aim of this study was to determine whether there is an association between specific CAPN10 diplotype (SNP-43, -19, and -63) and T2DM in the Korean population. Overall, 454 Korean patients with T2DM (male 230, female 224) and 236 non-diabetic controls (male 124, female 112) with no family history of diabetes were enrolled in this study. All the subjects were genotyped according to CAPN10 SNP-43, -19, and -63. The restriction fragment length polymorphism method was used for the three SNPs. There were eight estimated haplotype allelic variations. After adjusting for gender and age, the 111 haplotype was associated with a high risk of T2DM (P <0.0001). The 111/121 diplotype was associated with a high risk of T2DM (odds ratio =2.580, 95% confidence interval =1.602-4.155, P =0.001). The high-risk haplotype (112/121) in Mexican-Americans was not significant in our study population. In conclusion, we found that a novel 111/121 diplotype in Calpain-10 gene is associated with T2DM in the Korean population.
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchondong, Sedaemungu, Seoul, Korea.
authors.forename: Eun Seok
authors.initials: ES
authors.lastname: Kang
authors.forename: Hye Joo
authors.initials: HJ
authors.lastname: Kim
authors.forename: Moonsuk
authors.initials: M
authors.lastname: Nam
authors.forename: Chung Mo
authors.initials: CM
authors.lastname: Nam
authors.forename: Chul Woo
authors.initials: CW
authors.lastname: Ahn
authors.forename: Bong Soo
authors.initials: BS
authors.lastname: Cha
authors.forename: Hyun Chul
authors.initials: HC
authors.lastname: Lee
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D002154:Calpain / Q000235:genetics*; D016022:Case-Control Studies; D016001:Confidence Intervals; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D002154:Calpain; C415197:calpain 10