Genetic variation associated with hypersensitivity to mercury

Austin, David William, Spolding,B, Gondalia,S, Shandley,K, Palombo,EA, Knowles,S and Walder, Ken 2014, Genetic variation associated with hypersensitivity to mercury, Toxicology International, vol. 21, no. 3, pp. 236-241, doi: 10.4103/0971-6580.155327.

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Title Genetic variation associated with hypersensitivity to mercury
Author(s) Austin, David WilliamORCID iD for Austin, David William
Walder, KenORCID iD for Walder, Ken
Journal name Toxicology International
Volume number 21
Issue number 3
Start page 236
End page 241
Publisher Medknow Publications
Place of publication India
Publication date 2014-09
ISSN 0971-6580
Keyword(s) Genetics
mercury sensitivity
methylenetetrahydrofolate reductase
paraoxanase 1
pink disease
Summary 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.
Language eng
DOI 10.4103/0971-6580.155327
Field of Research 110311 Medical Genetics (excl Cancer Genetics)
Socio Economic Objective 970111 Expanding Knowledge in the Medical and Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Copyright notice ©2014, Medknow Publications
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Collections: Faculty of Health
School of Psychology
School of Medicine
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