Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College, Dublin, Ireland.
Autism Res. 2010 Dec;3(6):342-4. doi: 10.1002/aur.157. Epub 2010 Dec 3.
Autism is a neurodevelopmental disorder characterized by impairments in three core areas--language, social interaction and restricted/repetitive behaviours. It is generally accepted that genetics plays a large role in the aetiology of autism, but the exact mechanism is still unknown. We recently published evidence of an association between autism and the ITGA4 gene [Conroy et al., 2008]. Two genomic regions have shown evidence of linkage to autism in multiple studies--2q31-q33 and 17q21-q22. Both of these regions harbour multiple integrin subunit genes. We tested markers in ITGA3, ITGA6, ITGAV and ITGB3 for association with autism in the Irish autism sample. No markers in ITGA3, ITGA6, ITGAV and ITGB3 were found to be associated with autism. Three 3-marker haplotypes in ITGAV, ITGA3 and ITGA6 were found to be nominally associated (0.01 < P < 0.05) and to have unremarkable findings. Our data indicates that in the Irish autism sample the integrin genes tested here do not play an important role in the aetiology of autism.
自闭症是一种神经发育障碍，其特征是语言、社交互动和受限/重复行为方面的损伤。人们普遍认为，遗传学在自闭症的发病机制中起着重要作用，但确切的机制仍不清楚。我们最近发表了自闭症与 ITGA4 基因之间存在关联的证据[Conroy 等人，2008 年]。在多项研究中，已经有两个基因组区域显示出与自闭症有关的连锁证据——2q31-q33 和 17q21-q22。这两个区域都包含多个整合素亚基基因。我们在爱尔兰自闭症样本中测试了 ITGA3、ITGA6、ITGAV 和 ITGB3 中的标记物与自闭症的关联。未发现 ITGA3、ITGA6、ITGAV 和 ITGB3 中的任何标记物与自闭症有关。在 ITGAV、ITGA3 和 ITGA6 中发现了三个 3 标记物单倍型，它们与自闭症呈名义相关（0.01 < P < 0.05），且未发现显著发现。我们的数据表明，在爱尔兰自闭症样本中，这里测试的整合素基因在自闭症的发病机制中没有起重要作用。
