Rahbar Mohammad H, Samms-Vaughan Maureen, Ma Jianzhong, Bressler Jan, Loveland Katherine A, Ardjomand-Hessabi Manouchehr, Dickerson Aisha S, Grove Megan L, Shakespeare-Pellington Sydonnie, Beecher Compton, McLaughlin Wayne, Boerwinkle Eric
Division of Epidemiology, Human Genetics, and Environmental Sciences (EHGES), University of Texas School of Public Health at Houston, Houston, TX 77030, USA.
Department of Child & Adolescent Health, The University of the West Indies (UWI), Mona Campus, Kingston 7, Jamaica.
Int J Environ Res Public Health. 2014 Aug 6;11(8):7874-95. doi: 10.3390/ijerph110807874.
Arsenic is a toxic metalloid with known adverse effects on human health. Glutathione-S-transferase (GST) genes, including GSTT1, GSTP1, and GSTM1, play a major role in detoxification and metabolism of xenobiotics. We investigated the association between GST genotypes and whole blood arsenic concentrations (BASC) in Jamaican children with and without autism spectrum disorder (ASD). We used data from 100 ASD cases and their 1:1 age- and sex-matched typically developing (TD) controls (age 2-8 years) from Jamaica. Using log-transformed BASC as the dependent variable in a General Linear Model, we observed a significant interaction between GSTP1 and ASD case status while controlling for several confounding variables. However, for GSTT1 and GSTM1 we did not observe any significant associations with BASC. Our findings indicate that TD children who had the Ile/Ile or Ile/Val genotype for GSTP1 had a significantly higher geometric mean BASC than those with genotype Val/Val (3.67 µg/L vs. 2.69 µg/L, p < 0.01). Although, among the ASD cases, this difference was not statistically significant, the direction of the observed difference was consistent with that of the TD control children. These findings suggest a possible role of GSTP1 in the detoxification of arsenic.
砷是一种有毒类金属，已知会对人体健康产生不良影响。谷胱甘肽 - S - 转移酶（GST）基因，包括GSTT1、GSTP1和GSTM1，在异生物素的解毒和代谢中起主要作用。我们调查了牙买加患有和未患有自闭症谱系障碍（ASD）的儿童中GST基因型与全血砷浓度（BASC）之间的关联。我们使用了来自牙买加100例ASD病例及其1:1年龄和性别匹配的正常发育（TD）对照（2至8岁）的数据。在一般线性模型中，将对数转换后的BASC作为因变量，在控制了几个混杂变量的情况下，我们观察到GSTP1与ASD病例状态之间存在显著的相互作用。然而，对于GSTT1和GSTM1，我们未观察到与BASC有任何显著关联。我们的研究结果表明，GSTP1基因型为Ile/Ile或Ile/Val的TD儿童的几何平均BASC显著高于基因型为Val/Val的儿童（3.67μg/L对2.69μg/L，p < 0.01）。尽管在ASD病例中，这种差异没有统计学意义，但观察到的差异方向与TD对照儿童一致。这些发现表明GSTP1在砷解毒中可能发挥作用。
