Journal article

GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes

James C Barton, Wen-pin Chen, Mary J Emond, Pradyumna D Phatak, V Nathan Subramaniam, Paul C Adams, Lyle C Gurrin, Gregory J Anderson, Grant A Ramm, Lawrie W Powell, Katrina J Allen, John D Phillips, Charles J Parker, Gordon D McLaren, Christine E McLaren

Blood Cells Molecules and Diseases | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2017

Abstract

BACKGROUND: GNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores. We sought to determine associations of p.D519G and iron-related variables with iron stores in p.C282Y homozygotes. METHODS: We defined markedly increased iron stores as serum ferritin >2247pmol/L (>1000μg/L) and either hepatic iron >236μmol/g dry weight or iron >10g by induction phlebotomy (men and women). We defined normal or mildly elevated iron stores as serum ferritin <674.1pmol/L (<300μg/L) or either age≥40y with iron ≤2.5g iron by induction phlebotomy or age≥50y with ≤3.0g iron by induction phlebotomy (men only). We compared participant subgroups using univari..

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Grants

Awarded by National Institute of Diabetes and Digestive and Kidney Diseases


Awarded by National Cancer Institute


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

The authors recognize and appreciate financial support in part by grant 1R24DK093433-01 from the National Institute of Diabetes and Digestive and Kidney Diseases, grant P30 CA-62203 from the National Cancer Institute, and funds from the Department of Veterans Affairs. V.N.S., G.A.R., and G.J.A. are supported by Senior Research Fellowships from the NHMRC of Australia. J.C.B. is supported in part by Southern Iron Disorders Center.