Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects View Full Text


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Article Info

DATE

2008-11-18

AUTHORS

Kiyoshi Kunika, Toshihito Tanahashi, Shusuke Numata, Shu-ichi Ueno, Tetsuro Ohmori, Naoto Nakamura, Kazue Tsugawa, Katsuyuki Miyawaki, Maki Moritani, Hiroshi Inoue, Mitsuo Itakura

ABSTRACT

Genetic variants of the transcription factor 7-like 2 (TCF7L2) gene affect the risk of type 2 diabetes in populations with multiple ethnic groups. However, a comprehensive survey of this gene has not been done for a Japanese population. Thus, we conducted this gene-based association study, in which the common genetic variants were analyzed. Using 24 Japanese type 2 diabetic subjects, we first screened a 9.5 kb region, which included the entire coding sequence, to assess potential functional variants of TCF7L2. Sequencing revealed a common coding variant (Pro477Thr) in exon 14 of TCF7L2 that was not enrolled in the public SNP database. Nineteen SNPs and the microsatellite DG10S478 were genotyped across the gene in 2,877 unrelated Japanese subjects. This independent screen identified the previously reported rs7903146 with a strongest association (allele P = 0.0001, odds ratio = 1.59 [95% confidence interval 1.25–2.01]), but there was no significant association between Pro477Thr and type 2 diabetes (allele P = 0.64). Expression of the Pro477Thr variant did not alter TCF7L2 expression in 30 lymphoblast cells. Although a genotypic effect of Pro477Thr on expression of TCF7L2 was not apparent, Pro477Thr was identified as a common variant of TCF7L2 in 2,877 Japanese subjects. Further functional studies are required to determine the possible effect of this coding variant on type 2 diabetes. More... »

PAGES

972-982

References to SciGraph publications

  • 2007-06. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls in NATURE
  • 2008-05-21. Exon sequencing and association analysis of polymorphisms in TCF7L2 with type 2 diabetes in a Chinese population in DIABETOLOGIA
  • 2007-04-06. Genetic association of single nucleotide polymorphisms in endonuclease G-like 1 gene with type 2 diabetes in a Japanese population in DIABETOLOGIA
  • 2007-03-06. Replication study for the association of TCF7L2 with susceptibility to type 2 diabetes in a Japanese population in DIABETOLOGIA
  • 2004-08. Assessing the function of genetic variants in candidate gene association studies in NATURE REVIEWS GENETICS
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  • 2006-09-06. Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese in HUMAN GENETICS
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  • 2007-02-11. A genome-wide association study identifies novel risk loci for type 2 diabetes in NATURE
  • 2007-01-24. A genetic variation of the transcription factor 7-like 2 gene is associated with risk of type 2 diabetes in the Japanese population in DIABETOLOGIA
  • 2008-02-01. Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects in JOURNAL OF HUMAN GENETICS
  • 2007-01-07. Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution in NATURE GENETICS
  • 2003-04. Wanted: regulatory SNPs in NATURE GENETICS
  • 2006-01-15. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes in NATURE GENETICS
  • 2006-11-09. No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects in DIABETOLOGIA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10038-008-0339-2

    DOI

    http://dx.doi.org/10.1007/s10038-008-0339-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1006055487

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19012045


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