Further Evidence that the rs1858830 C Variant in the Promoter Region of the MET Gene is Associated with Autistic Disorder
Further Evidence that the rs1858830 C Variant in the Promoter Region of the MET Gene is Associated with Autistic Disorder
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DOI：
10.1002/aur.87
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发表时间：
2009-08-01
期刊：
影响因子：
4.7
通讯作者：
Schwartz, Charles E.
中科院分区：
文献类型：
--
作者：
Jackson, Pamela B.;Boccuto, Luigi;Schwartz, Charles E.
之前在三个独立队列中的研究表明，染色体7q31上MET基因启动子区的rs1858830 C等位基因变异与自闭症有关。另一项研究发现，在两个不相关的队列中，MET基因的其他变化与自闭症之间存在相关性。这项研究筛选了两个队列，一个来自南卡罗来纳州的自闭症队列和一个来自意大利的普及性发育障碍(PDD)队列，以寻找rs1858830中C等位基因变异的存在。南卡罗来纳州自闭症患者C等位基因变异频率显著高于南卡罗来纳州对照组(X_1(2)=5.8，df=1，P=0.02)。在南卡罗来纳州的队列中，当比较病例和对照组的CC和CG基因型与GG基因型时，发现与孤独症显著相关(优势比(OR)=1.64；95%可信区间(CI)=1.12-2.40；chi(2)=6.5，df=1，P=0.01)。在意大利队列中，CC或CG基因与GG基因相比与PDD无显著关联(OR=1.20；95%CI=0.56~2.56；chi(2)=0.2，df=1，P=0.64)。这项研究是发现MET基因启动子中的rs1858830 C变异与自闭症相关的第三项独立研究。
Previous studies in three independent cohorts have shown that the rs1858830 C allele variant in the promoter region of the MET gene on chromosome 7q31 is associated with autism. Another study has found correlations between other alterations in the MET gene and autism in two unrelated cohorts. This study screened two cohorts, an Autistic Disorder cohort from South Carolina and a Pervasive Developmental Disorder (PDD) cohort from Italy, for the presence of the C allele variant in rs1858830. A significant increase in the C allele variant frequency was found in the South Carolina Autistic Disorder patients as compared to South Carolina Controls (chi(2) = 5.8, df = 1, P = 0.02). In the South Carolina cohort, a significant association with Autistic Disorder was found when comparing the CC and CG genotypes to the GG genotype (odds ratio (OR) = 1.64; 95% confidence interval (CI) = 1.12-2.40; chi(2) = 6.5, df = 1, P = 0.01) in cases and controls. In the Italian cohort, no significant association with PDD was found when comparing the CC or CG genotype to the GG genotype (OR = 1.20; 95% CI = 0.56-2.56; chi(2) = 0.2, df = 1, P = 0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism.