Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus

Shiro Maeda, Shuichi Tsukada, Akio Kanazawa, Akihiro Sekine, Tatsuhiko Tsunoda, Daisuke Koya, Hiroshi Maegawa, Atsunori Kashiwagi, Tetsuya Babazono, Masafumi Matsuda, Yasushi Tanaka, Tomoaki Fujioka, Hiroshi Hirose, Takashi Eguchi, Yoichi Ohno, Christopher J. Groves, Andrew T. Hattersley, Graham A. Hitman, Mark Walker, Kohei KakuYasuhiko Iwamoto, Ryuzo Kawamori, Ryuichi Kikkawa, Naoyuki Kamatani, Mark I. McCarthy, Yusuke Nakamura

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58 Citations (Scopus)

Abstract

To search a gene(s) conferring susceptibility to type 2 diabetes mellitus, we genotyped nearly 60,000 gene-based SNPs for Japanese patients and found evidence that the gene at chromosome 6p12 encoding transcription-factor- activating protein 2β (TFAP2B) was a likely candidate in view of significant association of polymorphism in this gene with type 2 diabetes. Extensive analysis of this region identified that several variations within TFAP2B were significantly associated with type 2 diabetes [a variable number of tandem repeat locus: χ2=10.9, P=0.0009; odds ratio=1.57, 95% CI 1.20-2.06, intron 1+774 (G/T); χ2=11.6, P=0.0006; odds ratio=1.60, 95% CI 1.22-2.09, intron 1+2093 (A/C); χ2=12.2, P=0.0004; odds ratio=1.61, 95% CI 1.23-2.11]. The association of TFAP2B with type 2 diabetes was also observed in the UK population. These results suggest that TFAP2B might be a new candidate for conferring susceptibility to type 2 diabetes and contribute to the pathogenesis of type 2 diabetes.

Original languageEnglish
Pages (from-to)283-292
Number of pages10
JournalJournal of Human Genetics
Volume50
Issue number6
DOIs
Publication statusPublished - 2005 Aug 1

Keywords

  • Adipocytes
  • Association study
  • Single nucleotide polymorphism (SNP)
  • Type 2 diabetes
  • Variable number of tandem repeats (VNTR)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Maeda, S., Tsukada, S., Kanazawa, A., Sekine, A., Tsunoda, T., Koya, D., Maegawa, H., Kashiwagi, A., Babazono, T., Matsuda, M., Tanaka, Y., Fujioka, T., Hirose, H., Eguchi, T., Ohno, Y., Groves, C. J., Hattersley, A. T., Hitman, G. A., Walker, M., ... Nakamura, Y. (2005). Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. Journal of Human Genetics, 50(6), 283-292. https://doi.org/10.1007/s10038-005-0253-9