Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis

Hepatology

Volumn 63, Issue 6, 2016, Pages 2054-2055

  Besson Fournier, Céline ^a   Martinez, Maria ^a   Vinel, Jean Pierre ^b   Aguilar Martinez, Patricia ^a,c   Coppin, Hélène ^a   Roth, Marie Paule ^a  

^a France   (France)

^b CHU PURPAN   (France)

^c HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON;

ADULT; DISEASE SEVERITY; EXOME; FEMALE; FERRITIN BLOOD LEVEL; FRANCE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; GNPAT GENE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; IRON OVERLOAD; IRON STORAGE; LETTER; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84978240454     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.28259     Document Type: Letter

References (4)

1. McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology 2015;62:429-439.
2. Pelucchi S, Mariani R, Calza S, Fracanzani AL, Modignani GL, Bertola F, et al. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients. Haematologica 2012;97:1818-1825.
3. Handa P, Kowdley KV. Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: another iron in the fire? Hepatology 2015;62:337-339.
4. Bardou-Jacquet E, de Tayrac M, Mosser J, Deugnier Y. GNPAT variant associated with severe iron overload in HFE hemochromatosis. Hepatology 2015;62:1917-1918.