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. 2014 Sep-Dec;21(3):236-41.
doi: 10.4103/0971-6580.155327.

Genetic variation associated with hypersensitivity to mercury

David William Austin  1 , Briana Spolding  2 , Shakuntla Gondalia  3 , Kerrie Shandley  1 , Enzo A Palombo  4 , Simon Knowles  5 , Ken Walder  2
Affiliations

Genetic variation associated with hypersensitivity to mercury

David William Austin et al. Toxicol Int. 2014 Sep-Dec.

Abstract

Objectives: 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.

Materials and methods: 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).

Results: 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).

Conclusions: 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.

Keywords: Genetics; mercury sensitivity; methylenetetrahydrofolate reductase; paraoxanase 1; pink disease.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Representative genotyping results for (a) MTHFR rs1801131 and (b) PON1 rs662
See this image and copyright information in PMC

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