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[此处原文中两个“and”前缺少具体内容]与[此处原文中两个“and”后缺少具体内容]等位基因变体之间的相互作用作为自闭症谱系障碍的风险调节因素。

Interaction between and allele variants as a risk modulating-factor for autism spectrum disorders.

作者信息

Rahbar Mohammad H, Samms-Vaughan Maureen, Ma Jianzhong, Bressler Jan, Loveland Katherine A, Hessabi Manouchehr, Dickerson Aisha S, Grove Megan L, Shakespeare-Pellington Sydonnie, Beecher Compton, McLaughlin Wayne, Boerwinkle Eric

机构信息

Division of Epidemiology, Human Genetics, and Environmental Sciences (EHGES), University of Texas School of Public Health at Houston, and Division of Clinical and Translational Sciences, Department of Internal Medicine, Medical School, and Biostatistics/Epidemiology/Research Design (BERD) component, Center for Clinical and Translational Sciences (CCTS), University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.

Department of Child & Adolescent Health, The University of the West Indies (UWI), Mona Campus, Kingston, Jamaica.

出版信息

Res Autism Spectr Disord. 2015 Apr 1;12:1-9. doi: 10.1016/j.rasd.2014.12.008.

Abstract

We investigated the role of glutathione S-transferase () genes in Autism Spectrum Disorder (ASD). We used data from 111 pairs of age- and sex-matched ASD cases and typically developing (TD) controls between 2-8 years of age from Jamaica to investigate the role of pi 1 (), theta 1 (), and mu 1 () polymorphisms in susceptibility to ASD. In univariable conditional logistic regression models we did not observe significant associations between ASD status and , , or genotype (all > 0.15). However, in multivariable conditional logistic regression models, we identified a significant interaction between and in relation to ASD. Specifically, in children heterozygous for the Ile105Val polymorphism, the odds of ASD was significantly higher in those with the null genotype than those with the other genotypes [Matched Odds Ratio (MOR) = 2.97, 95% CI (1.09, 8.01), = 0.03]. Replication in other populations is warranted.

摘要

我们研究了谷胱甘肽S-转移酶()基因在自闭症谱系障碍(ASD)中的作用。我们使用了来自牙买加111对年龄和性别匹配的2至8岁ASD病例及发育正常(TD)对照的数据,以研究π1()、θ1()和μ1()基因多态性在ASD易感性中的作用。在单变量条件逻辑回归模型中,我们未观察到ASD状态与、或基因型之间存在显著关联(所有>0.15)。然而,在多变量条件逻辑回归模型中,我们发现与ASD相关的和之间存在显著相互作用。具体而言,在Ile105Val多态性为杂合子的儿童中,基因型为无效的儿童患ASD的几率显著高于其他基因型儿童[匹配优势比(MOR)=2.97,95%可信区间(1.09,8.01),=0.03]。有必要在其他人群中进行重复研究。

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