A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
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DOI：
10.1016/j.ajhg.2007.09.015
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发表时间：
2008-01-01
影响因子：
9.8
通讯作者：
Chakravarti, Aravinda
中科院分区：
文献类型：
--
作者：
Arking, Dan E.;Cutler, David J.;Chakravarti, Aravinda
自闭症是一种儿童神经精神疾病，尽管表现出高遗传性，但在很大程度上未能确定其病因学基础上的特定遗传变异。我们进行了两阶段遗传学研究，其中全基因组连锁和基于家族的关联作图随后在独立样本中进行关联和复制研究。我们发现了接触蛋白相关蛋白样 2 (CNTNAP2)（神经毒素超家族的成员）中的一个常见多态性，该多态性与自闭症易感性显着相关。重要的是，遗传变异显示出父母来源和性别效应，概括了自闭症的遗传。
Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism.