GNPAT polymorphism rs11558492 is not associated with increased severity in a large cohort of HFE p.Cys282Tyr homozygous patients

Affiliations

¹ Inserm UMR1149, Center for Inflammation Research, Paris, France; Department of Genetics, Bichat University Hospital, Paris, France; Center for Porphyria Research, Louis Mourier Hospital, Colombes, France; Laboratory of excellence, GR-Ex Paris, France.
² Inserm UMR1078, French Blood Agency, Brest, France Gaëtan Saleun Fondation.
³ French Blood Agency - Medical Direction, La Plaine Saint-Denis, France.
⁴ Department of Molecular Genetics and Histocompatibility, University Hospital of Brest, Brest, France.

Comment

Dimitri Tchernitchko et al. Hepatology. 2017 Mar.

. 2017 Mar;65(3):1069-1071.

doi: 10.1002/hep.28742. Epub 2016 Oct 6.

¹ Inserm UMR1149, Center for Inflammation Research, Paris, France; Department of Genetics, Bichat University Hospital, Paris, France; Center for Porphyria Research, Louis Mourier Hospital, Colombes, France; Laboratory of excellence, GR-Ex Paris, France.
² Inserm UMR1078, French Blood Agency, Brest, France Gaëtan Saleun Fondation.
³ French Blood Agency - Medical Direction, La Plaine Saint-Denis, France.
⁴ Department of Molecular Genetics and Histocompatibility, University Hospital of Brest, Brest, France.

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McLaren GD, Barton JC, Ramm GA, Emond MJ, Subramaniam VN, Phatak PD, Adams PC, Powell LW, Gurrin LC, Anderson GJ, McLaren CE. McLaren GD, et al. Hepatology. 2017 Mar;65(3):1072-1073. doi: 10.1002/hep.29002. Epub 2017 Feb 3. Hepatology. 2017. PMID: 28010035 Free PMC article. No abstract available.

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD. McLaren CE, et al. Hepatology. 2015 Aug;62(2):429-39. doi: 10.1002/hep.27711. Epub 2015 Mar 18. Hepatology. 2015. PMID: 25605615 Free PMC article.