Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese

Yukio Horikawa, Naohisa Oda, Li Yu, Shigeo Imamura, Kentaro Fujiwara, Masaki Makino, Yutaka Seino, Mitsuyasu Itoh, Jun Takeda

研究成果: Article査読

57 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)244-247
ページ数4
ジャーナルJournal of Clinical Endocrinology and Metabolism
88
1
DOI
出版ステータスPublished - 01-01-2003

All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学
  • 生化学
  • 内分泌学
  • 臨床生化学
  • 生化学、医学

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