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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1016/0142-727x(83)90004-8

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1435-232X

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Common coding variant in the TCF7L2 gene and study

Authors: Kiyoshi Kunika Toshihito Tanahashi Shusuke Numata Shuichi Ueno Tetsuro Ohmori Naoto Nakamura Kazue Tsugawa Katsuyuki Miyawaki Maki Moritani Hiroshi Inoue Mitsuo Itakura
Publish Date: 2008/12
Volume: 53, Issue: 11, Pages: 972-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptGenetic variants of the transcription factor 7like 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 genebased association study in which the common genetic variants were analyzed Using 24 Japanese type 2 diabetic subjects we first screened a 95 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 2877 unrelated Japanese subjects This independent screen identified the previously reported rs7903146 with a strongest association allele P = 00001 odds ratio = 159 95 confidence interval 125–201 but there was no significant association between Pro477Thr and type 2 diabetes allele P = 064 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 2877 Japanese subjects Further functional studies are required to determine the possible effect of this coding variant on type 2 diabetes

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