Evidence for association between Disrupted-in-Schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study.
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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中国汉族人群精神分裂症中断1（DISC1）基因多态性与自闭症之间关联的证据：基于家庭的关联研究
DOI：
10.1186/1744-9081-7-14
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发表时间：
2011-05-15
期刊：
影响因子：
--
通讯作者：
Zhang D
中科院分区：
文献类型：
--
作者：
Zheng F;Wang L;Jia M;Yue W;Ruan Y;Lu T;Liu J;Li J;Zhang D
背景精神分裂症中的DISC1基因是最有前景的精神障碍候选基因之一。在之前的一项研究中，一个芬兰研究小组证明DISC1基因多态与自闭症和阿斯伯格综合症有关。然而，这一结果并未在韩国人群中得到复制。为了确定DISC1基因是否与中国汉族人群中的孤独症相关，我们进行了DISC1基因多态性与孤独症的家系关联研究。方法对367例孤独症患者(单生儿及其亲生父母)的DISC1基因的7个标签单核苷酸多态(SNPs)进行基因分型。结果发现3个SNP与孤独症有显著关联(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)。经Bonferroni校正后，位于DISC1第一内含子的SNP rs4366301仍然显著。当用双标记构建单倍型时，三种单倍型与孤独症显著相关。结论本研究为DISC1可能是自闭症的易感基因提供了证据。提示DISC1可能在自闭症的发病机制中起一定作用。
BackgroundDisrupted-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 thatDISC1polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whetherDISC1is associated with autism in Chinese Han population, we performed a family-based association study betweenDISC1polymorphisms and autism.MethodsWe genotyped seven tag single nucleotide polymorphisms (SNPs) inDISC1, 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.ResultsWe 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 ofDISC1, 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 empiricalpvalues.ConclusionsOur study provided evidence that theDISC1may be the susceptibility gene of autism. It suggestedDISC1might play a role in the pathogenesis of autism.
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