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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1002/zaac.19241370115

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1435-232X

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No evidence for significant association between GA

Authors: Mamoru Tochigi Chieko Kato Shinko Koishi Yuki Kawakubo Kenji Yamamoto Hideo Matsumoto Ohiko Hashimoto SooYung Kim Keiichiro Watanabe Yukiko Kano Eiji Nanba Nobumasa Kato Tsukasa Sasaki
Publish Date: 2007/12
Volume: 52, Issue: 12, Pages: 985-
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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 JavaScriptThe γaminobutyric acid GABA receptor genes GABRB3 GABRA5 and GABRG3 located on chromosome 15q11q13 have been major candidates for susceptibility genes for autism a neurodevelopmental disorder with a complex genetic etiology In this study we first investigated the association between the GABA receptor genes and autism in a Japanese population by analyzing 11 single nucleotide polymorphisms SNPs Intron 3 of GABRB3 was densely mapped because the previous studies observed the association of the microsatellite 155CA2 located in the region We observed no significant difference in allelic frequencies or genotypic distributions of the 11 SNPs between patients and controls A permutation test showed no significant global differences in estimated haplotype frequencies between patients and controls Analysis after confining the subjects to males showed similar results Thus this study provides no positive evidence of an association between the GABA receptor genes and autism in a Japanese population However in a SNP rs3212337 located near the microsatellite 155CA2 a significant deviation from the HardyWeinberg equilibrium was observed in patients p = 0029 corrected for multiple testing This finding may suggest further studies around the markers for more definitive conclusions

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