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

Genetic variation associated with hypersensitivity to mercury.

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School of Psychology, Deakin University, Victoria.
Metabolic Research Unit, School of Medicine, Deakin University, Victoria.
School of Psychology, Deakin University, Victoria ; Centre for Human Psychopharmacology, Swinburne University of Technology, Victoria.
Department of Chemistry and Biotechnology, Swinburne University of Technology, Victoria.
School of Psychology, Swinburne University of Technology, Victoria.



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.


Genetics; mercury sensitivity; methylenetetrahydrofolate reductase; paraoxanase 1; pink disease

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