title: Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese.
abstract: The 112/121 haplotype combination defined by the UCSNP-43, -19, and -63 alleles in the calpain-10 gene is associated with type 2 diabetes in Mexican Americans. To determine whether this genetic variation constitutes risk of type 2 diabetes in Japanese, we investigated its frequency in 177 patients with type 2 diabetes and 172 controls. Though this variation occurs in Japanese more frequently than in Mexican Americans, there is no significant difference in frequency between diabetic (29.9%) and control (31.9%) subjects. We also screened all exons and the putative promoter of the calpain-10 gene for mutations in 96 of the genotyped patients, resulting in the identification of 7 coding variants, including 3 missense mutations and 5 nucleotide alterations in the promoter. However, their frequencies all are similar in patients and controls, suggesting that these genetic variations are not a major factor in the occurrence of type 2 diabetes in Japanese, although they could yet be associated with various phenotypes of the disease.
authors.affiliation: Laboratory of Molecular Genetics, Department of Cell Biology, Institute for Molecular and Cellular Regulation, Gunma University, Gunma 371-8512, Japan. yhorika@showa.gunma-u.ac.jp
authors.forename: Yukio
authors.initials: Y
authors.lastname: Horikawa
authors.forename: Naohisa
authors.initials: N
authors.lastname: Oda
authors.forename: Li
authors.initials: L
authors.lastname: Yu
authors.forename: Shigeo
authors.initials: S
authors.lastname: Imamura
authors.forename: Kentaro
authors.initials: K
authors.lastname: Fujiwara
authors.forename: Masaki
authors.initials: M
authors.lastname: Makino
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Seino
authors.forename: Mitsuyasu
authors.initials: M
authors.lastname: Itoh
authors.forename: Jun
authors.initials: J
authors.lastname: Takeda
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D002154:Calpain / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation; D015309:Glucose Clamp Technique; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D017058:Mexican Americans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D002154:Calpain; C415197:calpain 10