Association of the FGA and SLC6A4 Genes with Autistic Spectrum Disorder in a Korean Population

作者：Ro MyungJa; Won SeongSik; Kang HyunJun; Kim Su Yeon; Lee Seung Ku; Nam Min; Bang Hee Jung; Yang Jae Won; Choi Kyung Sik; Kim Su Kang; Chung Joo Ho; Kwack KyuBum^*

来源：Neuropsychobiology, 2013, 68(4): 212-220.

DOI：10.1159/000355299

• Autism spectrum disorder
• Polymorphism
• Childhood Autism Rating Scale
• SLC6A4
• FGA

Background: Autism spectrum disorder (ASD) is a neurobiological disorder characterized by distinctive impairments in cognitive function, language, and behavior. Linkage and population studies suggest a genetic association between solute carrier family 6 member 4 (SLC6A4) variants and ASD. Method: Logistic regression was used to identify associations between single-nucleotide polymorphisms (SNPs) and ASD with 3 alternative models (additive, dominant, and recessive). Linear regression analysis was performed to determine the influence of SNPs on Childhood Autism Rating Scale (CARS) scores as a quantitative phenotype. Results: In the present study, we examined the associations of SNPs in the SLC6A4 gene and the fibrinogen alpha chain (FGA) gene. Logistic regression analysis showed a significant association between the risk of ASD and rs2070025 and rs2070011 in the FGA gene. The gene-gene interaction between SLC6A4 and FGA was not significantly associated with ASD susceptibility. However, polymorphisms in both SLC6A4 and the FGA gene significantly affected the symptoms of ASD. Conclusion: Our findings indicate that FGA and SLC6A4 gene interactions may contribute to the phenotypes of ASD rather than the incidence of ASD.

• 出版日期2013