Autism Research Today is a free monthly online journal that collates and summarizes the latest research about Autism, including details on symptoms, diagnosis, treatment, causes, effects.

Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios.

Cho IH, Yoo HJ, Park M, Lee YS, Kim SA

Department of Psychiatry, Gachon University of Medicine and Science, 1198 Guwol-Dong, Namdong-Gu, Incheon, 405-760, Republic of Korea.

The potential role of the serotoninergic system in the development of autistic disorder has long been suggested based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Promoter region polymorphisms (5-HTTLPR) of the serotonin transporter gene (SLC6A4) and the 5-HT2A receptor gene (HTR2A) have been studied as potential candidate genes in autism spectrum disorder (ASD). The objective of this family-based linkage/association study is to evaluate the relationship between ASD and 5-HTTLPR as well as that between some SNPs of HTR2A and ASD in Korean trios by using the transmission disequilibrium test (TDT). Genotyping was performed for 5-HTTLPR and two single nucleotide polymorphisms (SNPs) (-1438G/A and 102T/C) of HTR2A. The TDT, linkage disequilibrium (LD) analysis and haplotype analysis were performed. This study comprised 126 complete trios of ASD patients and both parents. With regard to the transmission of 5-HTTLPR, the long allelic variant was preferentially transmitted in the ASD subjects. Based on the TDT results, there was no significant difference in the transmission of the two SNPs of HTR2A. However, in the results of the haplotype analysis, the AT haplotype demonstrated significant evidence of association with autism. The global chi(2) test for haplotype transmission revealed a significant association between HTR2A and autism. Although we identified a significant association between ASD and 5-HTTLPR as well as between ASD and HTR2A, it cannot exclude the chance finding because of the low level of statistical significance and relatively small power. We believe that further studies are required to examine the relationship between serotonin-related genes and the behavioral phenotypes of ASD in the Korean population.

Published 5 March 2007 in Brain Res, 1139: 34-41.
Full-text of this article is available online (may require subscription).

© 2004-2008 Autism Research Today. All Rights Reserved.