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Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families
So Young Yang1, Hee Jeong Yoo, In Hee Cho
1Department of Pharmacology, School of Medicine, Eulji University, 77, Gyeryong-ro, 771 Beon-gil, Jung-gu, Daejeon 301-746, Republic of Korea.
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.
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