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The GSTP1 rs1695 Polymorphism Is Associated with Mercury Levels and Neurodevelopmental Delay in Indigenous Munduruku Children from the Brazilian Amazon

机译:GSTP1 rs1695 多态性与巴西亚马逊土著 Munduruku 儿童的汞水平和神经发育迟缓有关

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摘要

Genetic polymorphisms may influence mercury (Hg) toxicity. The aims of this study were to evaluate individual factors, such as the presence of the GSTP1 rs1695 polymorphism, associated with internal Hg dose and child neurodevelopment in indigenous people from the Brazilian Amazon chronically exposed to Hg. Eighty-two indigenous children were clinically evaluated, hair Hg was measured, and the GSTP1 rs1695 polymorphism was genotyped. The mean age was 4.8 years, the median Hg was 5.5 µg/g, and 93.8% of children exceeded the safe limit (2.0 µg/g). Fish consumption was associated with Hg levels (p = 0.03). The GSTP1 rs1695 A>G polymorphism was in the Hardy–Weinberg equilibrium and the highest prevalence of the GSTP1 AA genotype (80%) was found in Sawré Aboy, which had the highest Hg levels (10 µg/g) among the studied villages. The Hg levels tended to increase over the years in males and in carriers of the GSTP1 AA genotype (0.69 µg/g and 0.86 µg/g, respectively). Nine children failed the neurodevelopmental test, all of whom had Hg > 2.0 µg/g, and 88.9% carried the GSTP1 AA or AG genotypes, previously associated with the highest internal Hg doses and neurocognitive disorders. The genetic counseling of this population is important to identify the individuals at greater risk for neurodevelopmental disorders resulting from chronic Hg exposure.
机译:遗传多态性可能会影响汞 (Hg) 的毒性。本研究的目的是评估个体因素,例如 GSTP1 rs1695 多态性的存在,这与长期暴露于汞的巴西亚马逊土著人民的内部汞剂量和儿童神经发育相关。对 82 名土著儿童进行了临床评估,测量了头发汞,并对 GSTP1 rs1695 多态性进行了基因分型。平均年龄为 4.8 岁,中位汞柱为 5.5 μg/g,93.8% 的儿童超过安全限值 (2.0 μg/g)。鱼类消费量与 Hg 水平相关 (p = 0.03)。GSTP1 rs1695 A>G 多态性处于 Hardy-Weinberg 平衡状态,GSTP1 AA 基因型的患病率最高 (80%) 出现在 Sawré Aboy 中,其 Hg 水平最高 (10 μg/g),在研究的村庄中。多年来,男性和 GSTP1 AA 基因型携带者的汞水平趋于增加(分别为 0.69 μg/g 和 0.86 μg/g)。9 名儿童未通过神经发育测试,所有儿童的汞> 2.0 μg/g,88.9% 携带 GSTP1 AA 或 AG 基因型,这些基因型以前与最高内部汞剂量和神经认知障碍有关。对这一人群进行遗传咨询对于确定因长期接触汞而导致神经发育障碍风险较高的个体非常重要。

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