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. Attached Files Name Description MIMEType Size Downloads Title Genetic variation associated with hypersensitivity to mercury Author(s) Austin, David William orcid.org/0000-0002-1296-3555 Spolding,B Gondalia,S Shandley,K Palombo,EA Knowles,S Walder, Ken orcid.org/0000-0002-6758-4763 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 Persistent URL http://hdl.handle.net/10536/DRO/DU:30073455 Document type: Journal Article Collections: Faculty of Health School of Psychology School of Medicine Related Links Link Description Connect to published version Go to link with your DU access privileges     Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved. Versions Version Filter Type Wed, 27 May 2015, 13:22:34 EST Wed, 27 May 2015, 13:23:33 EST Thu, 28 May 2015, 05:01:23 EST Sat, 20 Jun 2015, 06:13:02 EST Mon, 06 Jul 2015, 10:35:53 EST Mon, 06 Jul 2015, 10:39:15 EST Mon, 12 Oct 2015, 16:07:35 EST Wed, 06 Dec 2017, 06:14:57 EST Mon, 05 Feb 2018, 15:05:06 EST Mon, 05 Feb 2018, 15:06:20 EST Fri, 02 Mar 2018, 15:55:06 EST Filtered Full Citation counts:   Cited 0 times in TR Web of Science Cited 9 times in Scopus Search Google Scholar Access Statistics: 562 Abstract Views, 65 File Downloads  -  Detailed Statistics Created: Wed, 27 May 2015, 13:23:33 EST

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