中国汉族人群中 MET 变异与自闭症关联性的复制。
Replication of the association of a MET variant with autism in a Chinese Han population.
机构信息
Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang, People's Republic of China.
出版信息
PLoS One. 2011;6(11):e27428. doi: 10.1371/journal.pone.0027428. Epub 2011 Nov 8.
BACKGROUND
Autism is a common, severe and highly heritable neurodevelopmental disorder in children, affecting up to 100 children per 10,000. The MET gene has been regarded as a promising candidate gene for this disorder because it is located within a replicated linkage interval, is involved in pathways affecting the development of the cerebral cortex and cerebellum in ways relevant to autism patients, and has shown significant association signals in previous studies.
PRINCIPAL FINDINGS
Here, we present new ASD patient and control samples from Heilongjiang, China and use them in a case-control and family-based replication study of two MET variants. One SNP, rs38845, was successfully replicated in a case-control association study, but failed to replicate in a family-based study, possibly due to small sample size. The other SNP, rs1858830, failed to replicate in both case-control and family-based studies.
CONCLUSIONS
This is the first attempt to replicate associations in Chinese autism samples, and our result provides evidence that MET variants may be relevant to autism susceptibility in the Chinese Han population.
背景
自闭症是一种常见的、严重的、高度遗传性的儿童神经发育障碍，每 10000 名儿童中就有多达 100 名患有自闭症。MET 基因被认为是这种疾病的一个有希望的候选基因，因为它位于一个被复制的连锁区间内，涉及到影响大脑皮层和小脑发育的途径，这些途径与自闭症患者有关，并且在之前的研究中显示出显著的关联信号。
主要发现
在这里，我们提供了来自中国黑龙江的新的自闭症患者和对照样本，并在两个 MET 变体的病例对照和基于家庭的复制研究中使用了这些样本。一个 SNP(rs38845) 在病例对照关联研究中成功复制，但在基于家庭的研究中未能复制，这可能是由于样本量小。另一个 SNP(rs1858830) 在病例对照和基于家庭的研究中均未复制。
结论
这是首次在中国自闭症样本中尝试复制关联，我们的结果提供了证据，表明 MET 变体可能与中国汉族人群的自闭症易感性有关。
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