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Barton, James
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Publications (7/7 displayed)
- 2015Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overloadcitations
- 2013Embedded fibre optic sensors within additive layer manufactured componentscitations
- 2012Modelling of Long Period Gratings with Metallic (Pd) Jacket
- 2009All Fibre based Hydrogen Sensing using Palladium coated Long Period Gratings
- 2005The effects of progressive wear on the frequency characteristic of acoustic emission acquired during face millingcitations
- 2004Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.citations
- 2004Hemojuvelin Mutations in Whites, Blacks and Asians with Primary Iron Overload and in Control Subjects.
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article
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload
Abstract
To identify polymorphisms associated with variability of iron overload severity in <em>HFE</em>-associated hemochromatosis, we performed exome sequencing of DNA from 35 male <em>HFE</em> C282Y homozygotes with either markedly increased iron stores (n=22; cases) or with normal or mildly increased iron stores (n=13; controls). The 35 participants, residents of the United States, Canada, and Australia, reported no or light alcohol consumption. Sequencing data included 82,068 single-nucleotide variants, and 10,337 genes were tested for a difference between cases and controls. A variant in the <em>GNPAT</em> gene showed the most significant association with severe iron overload (<em>P</em>=3 x10<sup>-6</sup>; <em>P</em>=0.033 by the likelihood ratio test after correction for multiple comparisons). Sixteen of twenty-two participants with severe iron overload had <em>glyceronephosphate O-acyltransferase</em> (<em>GNPAT</em>) polymorphism p.D519G (rs11558492; 15 heterozygotes, one homozygote). No control participant had this polymorphism. To examine functional consequences of <em>GNPAT</em> deficiency, we performed small interfering RNA based knockdown of <em>GNPAT</em> in the human liver-derived cell line, HepG2/C3A. This knockdown resulted in a 17-fold decrease in expression of the messenger RNA encoding the iron-regulatory hormone, hepcidin.<em>Conclusion: GNPAT</em> p.D519G is associated with a high-iron phenotype in <em>HFE</em> C282Y homozygotes and may participate in hepcidin regulation. (H<span class="smallCaps">epatology</span> 2015;62:429-439