Autism spectrum disorders associated with X chromosome markers in French-Canadian males
Autism spectrum disorders associated with X chromosome markers in French-Canadian males
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DOI：
10.1038/sj.mp.4001756
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发表时间：
2006-02-01
影响因子：
11
通讯作者：
Rouleau, GA
中科院分区：
文献类型：
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作者：
Gauthier, J;Joober, R;Rouleau, GA
现在已经确定遗传因素在孤独症的发病机制中起着重要作用，并且越来越多的证据表明X染色体的影响。使用被诊断患有自闭症谱系障碍的受试者样本，完全由法裔加拿大人（FC）血统的男性组成，我们使用基于家庭的关联研究测试了覆盖整个X染色体的标记。我们的初步分析显示，在两个位点：DXS6789（P=0.026）和DXS8043（P=0.0101）的关联存在。在第二步中，我们使用额外的标记、额外的受试者和基于单倍型的分析（最佳获得的P值0.00001）来支持DXS8043的关联。这些结果提供了支持的存在的X染色体上的一个位点，易患自闭症谱系障碍的FC。
It is now well established that genetic factors play an important role in the pathogenesis of autism disorder and converging lines of evidence suggest the implication of the X chromosome. Using a sample of subjects diagnosed with autism spectrum disorders, exclusively composed of males from French-Canadian (FC) origin, we tested markers covering the entire X chromosome using a family-based association study. Our initial analysis revealed the presence of association at two loci: DXS6789 (P=0.026) and DXS8043 (P=0.0101). In a second step, we added support to the association at DXS8043 using additional markers, additional subjects and a haplotype-based analysis (best obtained P-value 0.00001). These results provide support for the existence of a locus on the X chromosome that predisposes the FC to autism spectrum disorders.