Arking Dan E, Cutler David J, Brune Camille W, Teslovich Tanya M, West Kristen, Ikeda Morna, Rea Alexis, Guy Moltu, Lin Shin, Cook Edwin H, Chakravarti Aravinda
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Am J Hum Genet. 2008 Jan;82(1):160-4. doi: 10.1016/j.ajhg.2007.09.015.
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.
自闭症是一种儿童神经精神疾病，尽管具有高度遗传性，但在很大程度上仍未找到确定其病因的特定基因变异。我们进行了一项两阶段基因研究，在全基因组连锁和基于家系的关联定位之后，对一个独立样本进行了关联和重复研究。我们在接触蛋白相关蛋白样2（CNTNAP2）中发现了一种常见的多态性，该蛋白是神经连接蛋白超家族的成员，与自闭症易感性显著相关。重要的是，该基因变异表现出亲本来源和性别效应，再现了自闭症的遗传模式。
