Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families.
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.
Department of Pharmacology, School of Medicine, Eulji University, 77, Gyeryong-ro, 771 Beon-gil, Jung-gu, Daejeon 301-746, Republic of Korea.
So Young
SY
Yang
Hee Jeong
HJ
Yoo
In Hee
IH
Cho
Mira
M
Park
Soon Ae
SA
Kim
D044466:Asian People / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D014365:Tryptophan Hydroxylase / Q000235:genetics*
C494784:TPH2 protein, human; D014365:Tryptophan Hydroxylase