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Behavioral and Brain Functions
Published in: Behavioral and Brain Functions 1/2011

Open Access 01-12-2011 | Research

Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study

Authors: Fanfan Zheng, Lifang Wang, Meixiang Jia, Weihua Yue, Yan Ruan, Tianlan Lu, Jing Liu, Jun Li, Dai Zhang

Published in: Behavioral and Brain Functions | Issue 1/2011

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Abstract

Background

Disrupted-in-Schizophrenia 1 (DISC1) gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism.

Methods

We genotyped seven tag single nucleotide polymorphisms (SNPs) in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents) including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT) and Haploview software.

Results

We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02). After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values.

Conclusions

Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.
Appendix
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Metadata
Title
Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study
Authors
Fanfan Zheng
Lifang Wang
Meixiang Jia
Weihua Yue
Yan Ruan
Tianlan Lu
Jing Liu
Jun Li
Dai Zhang
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Behavioral and Brain Functions / Issue 1/2011
Electronic ISSN: 1744-9081
DOI
https://doi.org/10.1186/1744-9081-7-14

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