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Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families

Authors
Yang, So YoungYoo, Hee JeongCho, In HeePark, MiraKim, Soon Ae
Issue Date
Aug-2012
Publisher
ELSEVIER IRELAND LTD
Keywords
Tryptophan hydroxylase 2 gene; Autism spectrum disorder; Single nucleotide polymorphism; Association
Citation
NEUROSCIENCE RESEARCH, v.73, no.4, pp.333 - 336
Journal Title
NEUROSCIENCE RESEARCH
Volume
73
Number
4
Start Page
333
End Page
336
URI
https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/16240
DOI
10.1016/j.neures.2012.05.012
ISSN
0168-0102
Abstract
It was performed a family-based association study of 6 single nucleotide polymorphisms (SNPs) from the TPH2 with autism spectrum disorder (ASD) in 151 Korean trios. We found a significant association at the rs2129575 with ASD susceptibility (corrected p = 0.006). Furthermore, after conducting with the quantitative scores in the Autism Diagnostic Interview-Revised, there were associations between restricted, repetitive, and stereotyped patterns of behavior (preoccupation with parts of objects or nonfunctional elements of materials) in ASD and SNPs in TPH2. These results suggest that TPH2 polymorphisms influence the phenotypic impairments of ASD and enhance ASD susceptibility. (C) 2012 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.
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