Austin David William, Spolding Briana, Gondalia Shakuntla, Shandley Kerrie, Palombo Enzo A, Knowles Simon, Walder Ken
School of Psychology, Deakin University, Victoria.
Metabolic Research Unit, School of Medicine, Deakin University, Victoria.
Toxicol Int. 2014 Sep-Dec;21(3):236-41. doi: 10.4103/0971-6580.155327.
Very little is known about mechanisms of idiosyncratic sensitivity to the damaging effects of mercury (Hg); however, there is likely a genetic component. The aim of the present study was to search for genetic variation in genes thought to be involved in Hg metabolism and transport in a group of individuals identified as having elevated Hg sensitivity compared to a normal control group.
Survivors of pink disease (PD; infantile acrodynia) are a population of clinically identifiable individuals who are Hg sensitive. In the present study, single nucleotide polymorphisms in genes thought to be involved in Hg transport and metabolism were compared across two groups: (i) PD survivors (n = 25); and (ii) age- and sex-matched healthy controls (n = 25).
Analyses revealed significant differences between groups in genotype frequencies for rs662 in the gene encoding paraoxanase 1 (PON1) and rs1801131 in the gene encoding methylenetetrahydrofolate reductase (MTHFR).
We have identified two genetic polymorphisms associated with increased sensitivity to Hg. Genetic variation in MTHFR and PON1 significantly differentiated a group formerly diagnosed with PD (a condition of Hg hypersensitivity) with age- and gender-matched healthy controls.
关于对汞（Hg）破坏作用的特异敏感性机制，我们了解甚少；然而，可能存在遗传因素。本研究的目的是在一组被认定比正常对照组对汞敏感性更高的个体中，寻找被认为参与汞代谢和转运的基因中的遗传变异。
粉红病（PD；婴儿肢痛病）幸存者是临床上可识别的对汞敏感的人群。在本研究中，比较了两组被认为参与汞转运和代谢的基因中的单核苷酸多态性：（i）PD幸存者（n = 25）；以及（ii）年龄和性别匹配的健康对照组（n = 25）。
分析显示，编码对氧磷酶1（PON1）的基因中的rs662和编码亚甲基四氢叶酸还原酶（MTHFR）的基因中的rs1801131在两组间的基因型频率存在显著差异。
我们已鉴定出两种与对汞敏感性增加相关的遗传多态性。MTHFR和PON1中的遗传变异显著区分了一个曾被诊断为PD（一种汞超敏状态）的群体与年龄和性别匹配的健康对照组。
