title: Genetic variation associated with hypersensitivity to mercury.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: School of Psychology, Deakin University, Victoria.
authors.forename: David William
authors.initials: DW
authors.lastname: Austin
authors.affiliation: Metabolic Research Unit, School of Medicine, Deakin University, Victoria.
authors.forename: Briana
authors.initials: B
authors.lastname: Spolding
authors.affiliation: School of Psychology, Deakin University, Victoria ; Centre for Human Psychopharmacology, Swinburne University of Technology, Victoria.
authors.forename: Shakuntla
authors.initials: S
authors.lastname: Gondalia
authors.affiliation: School of Psychology, Deakin University, Victoria.
authors.forename: Kerrie
authors.initials: K
authors.lastname: Shandley
authors.affiliation: Department of Chemistry and Biotechnology, Swinburne University of Technology, Victoria.
authors.forename: Enzo A
authors.initials: EA
authors.lastname: Palombo
authors.affiliation: School of Psychology, Swinburne University of Technology, Victoria.
authors.forename: Simon
authors.initials: S
authors.lastname: Knowles
authors.affiliation: Metabolic Research Unit, School of Medicine, Deakin University, Victoria.
authors.forename: Ken
authors.initials: K
authors.lastname: Walder
keywords: Genetics; mercury sensitivity; methylenetetrahydrofolate reductase; paraoxanase 1; pink disease