Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland.
Department of Biobehavioral Nursing and Health Informatics, University of Washington, Seattle, WA, USA.
Environ Res. 2018 Aug;165:1-10. doi: 10.1016/j.envres.2018.04.001. Epub 2018 Apr 11.
Lead (Pb) is neurotoxic and children are highly susceptible to this effect, particularly within the context of continuous low-level Pb exposure. A current major challenge is identification of children who may be uniquely susceptible to Pb toxicity because of genetic predisposition. Learning and memory are among the neurobehavioral processes that are most notably affected by Pb exposure, and modification of N-methyl-D-aspartate receptors (NMDAR) that regulate these processes during development are postulated to underlie these adverse effects of Pb. We examined the hypothesis that polymorphic variants of genes encoding glutamate receptor, ionotropic, NMDAR subunits 2A and 2B, GRIN2A and GRIN2B, exacerbate the adverse effects of Pb exposure on these processes in children. Participants were subjects who participated as children in the Casa Pia Dental Amalgam Clinical Trial and for whom baseline blood Pb concentrations and annual neurobehavioral test results over the 7 year course of the clinical trial were available. Genotyping assays were performed for variants of GRIN2A (rs727605 and rs1070503) and GRIN2B (rs7301328 and rs1806201) on biological samples acquired from 330 of the original 507 trial participants. Regression modeling strategies were employed to evaluate the association between genotype status, Pb exposure, and neurobehavioral test outcomes. Numerous significant adverse interaction effects between variants of both GRIN2A and GRIN2B, individually and in combination, and Pb exposure were observed particularly among boys, preferentially within the domains of Learning & Memory and Executive Function. In contrast, very few interaction effects were observed among similarly genotyped girls with comparable Pb exposure. These findings support observations of an essential role of GRIN2A and GRIN2B on developmental processes underlying learning and memory as well as other neurological functions in children and demonstrate, further, modification of Pb effects on these processes by specific variants of both GRIN2A and GRIN2B genes. These observations highlight the importance of genetic factors in defining susceptibility to Pb neurotoxicity and may have important public health implications for future strategies aimed at protecting children and adolescents from potential health risks associated with low-level Pb exposure.
铅(Pb)是一种神经毒素,儿童尤其容易受到这种影响,尤其是在持续的低水平 Pb 暴露的情况下。当前的主要挑战是确定哪些儿童可能由于遗传易感性而对 Pb 毒性特别敏感。学习和记忆是受 Pb 暴露影响最明显的神经行为过程之一,据推测,发育过程中调节这些过程的 N-甲基-D-天冬氨酸受体(NMDAR)的修饰是 Pb 产生这些不利影响的基础。我们检验了这样一个假设,即编码谷氨酸受体、离子型 NMDAR 亚基 2A 和 2B 的基因的多态性变体,GRIN2A 和 GRIN2B,会加剧 Pb 暴露对儿童这些过程的不利影响。参与者是作为儿童参加 Casa Pia 牙科汞合金临床试验的受试者,并且对于他们,在临床试验的 7 年过程中,基线血液 Pb 浓度和每年的神经行为测试结果都可用。对来自原始 507 名试验参与者中的 330 名参与者的生物样本进行了 GRIN2A(rs727605 和 rs1070503)和 GRIN2B(rs7301328 和 rs1806201)变体的基因分型检测。回归建模策略用于评估基因型状态、Pb 暴露和神经行为测试结果之间的关联。观察到 GRIN2A 和 GRIN2B 的变体之间存在大量显著的不利交互作用,单独或组合使用时,特别是在学习和记忆以及执行功能领域中,与 Pb 暴露之间存在显著的不利交互作用。相比之下,在接受类似 Pb 暴露的具有相似基因型的女孩中,观察到的交互作用很少。这些发现支持了 GRIN2A 和 GRIN2B 在学习和记忆以及儿童其他神经功能的发育过程中起关键作用的观点,并进一步证明了特定的 GRIN2A 和 GRIN2B 基因变体对这些过程的 Pb 效应的修饰。这些观察结果突出了遗传因素在确定对 Pb 神经毒性的易感性方面的重要性,并可能对未来旨在保护儿童和青少年免受与低水平 Pb 暴露相关的潜在健康风险的策略具有重要的公共卫生意义。