Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium
Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium
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CNTNAP2 多态性与自闭症之间的关联：基于中国汉族人群的家庭研究以及结合精神病基因组学联盟 GWAS 数据的荟萃分析
DOI：
10.1002/aur.2078
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发表时间：
2019
期刊：
影响因子：
4.7
通讯作者：
Wang Lifang
中科院分区：
文献类型：
--
作者：
Zhang Tian;Zhang Jishui;Wang Ziqi;Jia Meixiang;Lu Tianlan;Wang Han;Yue Weihua;Zhang Dai;Li Jun;Wang Lifang
自闭症是一种儿童神经精神障碍，在复杂的病因中有很强的遗传成分的证据。接触蛋白相关蛋白样2 （CNTNAP2）是神经rexin超家族的一员，在神经发育中起着重要作用。cntnap2被认为是自闭症谱系障碍（ASD）最易感的基因之一。一些研究表明cntnap2与ASD有关，而另一些研究则认为没有关联。鉴于之前的研究结果不一致，我们在640名中国汉族自闭症三人组中对cntnap2的9个单核苷酸多态性（SNPs）与自闭症进行了基于家族的关联研究。然后，结合精神病学基因组学联盟（iPSYCH - PGC ASD, 2017）的数据和现有的关联研究，进行了一项更新的meta分析。在中国汉族人群中，没有snp与自闭症显著相关。在荟萃分析中，两个经常被报道的snp （rs2710102和rs7794745）与ASD没有显著相关性。因此，cntnap2多态性可能与自闭症无关。自闭症研究，2019,12:553-561。©2019国际自闭症研究协会，Wiley期刊，Inc.Lay摘要：在目前基于家族的关联研究中，中国汉族人群中没有单核苷酸多态性（snp）与自闭症显著相关。在最新的meta分析中，我们探讨了两个常被报道的insntnap2 snp （rs2710102和rs7794745）与ASD风险之间的关系。然而，结果显示没有显著的关联。因此，我们的研究表明cntnap2多态性可能与自闭症无关。
Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin‐associated protein‐like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development.CNTNAP2was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association ofCNTNAP2with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family‐based association study between 9 single‐nucleotide polymorphisms (SNPs) ofCNTNAP2and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta‐analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH‐PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta‐analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore,CNTNAP2polymorphisms might not be associated with autism.Autism Research2019, 12: 553–561. © 2019 International Society for Autism Research, Wiley Periodicals, Inc.Lay SummaryIn present family‐based association study, no single‐nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta‐analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) inCNTNAP2and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested thatCNTNAP2polymorphisms might not be associated with autism.