Polymorphism in the Promoter Region of SEMA5A Is Associated with Sociality Traits in Korean Subjects with Autism Spectrum Disorders.

Author: Soon Ae KIM ¹ ; Boong Nyun KIM ; Jae Won KIM ; Min Sup SHIN ; Tae Won PARK ; Jung Woo SON ; Un Sun CHUNG ; Mira PARK
Author Information

1. Department of Pharmacology, School of Medicine, Eulji University, Daejeon, Republic of Korea. sakim@eulji.ac.kr
Publication Type:Brief Communication
Keywords: Autism spectrum disorder; Semaphorin 5A gene; Polymorphism; Sociality
MeSH: Autism Spectrum Disorder*; Autistic Disorder*; Child; Genetic Predisposition to Disease; Genetic Variation; Haplotypes; Humans; Promoter Regions, Genetic*; Semaphorins
From:Psychiatry Investigation 2017;14(6):876-878
CountryRepublic of Korea
Language:English
Abstract: In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene (SEMA5A) for 250 Korean trios including children with ASDs. Family-based association testing and haplotype analysis revealed a statistically significant association between rs194085 and multiple sociality traits with Korean ASDs in the dominant model (p < 0.001, corrected p=0.035). This indicates that genetic variations in the 5' region of SEMA5A play a role in the genetic predisposition to sociality traits in Korean ASDs.