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

Cited 41 time in Web of Science Cited 42 time in Scopus
Authors
Cho, In Hee; Yoo, Hee Jeong; Park, Mira; Lee, Young Sik; Kim, Soon Ae
Issue Date
2007-02-07
Publisher
Elsevier
Citation
Brain Res. 2007 Mar 30;1139:34-41. Epub 2007 Jan 8.
Keywords
AdolescentAdultAsian Continental Ancestry Group/*geneticsAutistic Disorder/ethnology/*geneticsChildChild, PreschoolFemaleGene Frequency/geneticsHumansKoreaLinkage DisequilibriumMaleParentsPedigreePolymorphism, Single Nucleotide/geneticsReceptor, Serotonin, 5-HT2A/*geneticsSerotonin Plasma Membrane Transport Proteins/*genetics
Abstract
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.
ISSN
0006-8993 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17280648

http://hdl.handle.net/10371/29564
DOI
https://doi.org/10.1016/j.brainres.2007.01.002
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College of Medicine/School of Medicine (의과대학/대학원)Psychiatry (정신과학전공)Journal Papers (저널논문_정신과학전공)
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