Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study
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- 作者：Fanfan Zheng (1) (2)
Lifang Wang (1) (2)
Meixiang Jia (2)
Weihua Yue (1) (2)
Yan Ruan (1) (2)
Tianlan Lu (1) (2)
Jing Liu (2)
Jun Li (1) (2)
Dai Zhang (1) (2) - 关键词：DISC1 ; autism ; SNP ; FBAT ; association study
- 刊名：Behavioral and Brain Functions
- 出版年：2011
- 出版时间：December 2011
- 年：2011
- 卷：7
- 期：1
- 全文大小：554KB
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Lifang Wang (1) (2)
Meixiang Jia (2)
Weihua Yue (1) (2)
Yan Ruan (1) (2)
Tianlan Lu (1) (2)
Jing Liu (2)
Jun Li (1) (2)
Dai Zhang (1) (2)
1. Key Laboratory for Mental Health, Ministry of Health, Beijing, P.R. China
2. Institute of Mental Health, Peking University, Beijing, P. R. China - ISSN：1744-9081
文摘
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.