Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese.
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.
Horikawa
Yukio
Y
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
Oda
Naohisa
N
Yu
Li
L
Imamura
Shigeo
S
Fujiwara
Kentaro
K
Makino
Masaki
M
Seino
Yutaka
Y
Itoh
Mitsuyasu
M
Takeda
Jun
J
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
D002154:Calpain; C415197:calpain 10