Published Online
on January 23, 2009

A more recent version of this article appeared on February 1, 2009

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Original Article

HFE C282Y Homozygosity Is Associated With Lower Total and LDL Cholesterol: The Hemochromatosis and Iron Overload Screening (HEIRS) Study

Paul C. Adams^1,7; Jim S. Pankow²; James C. Barton³; Ron T. Acton⁴; Cathie Leiendecker- Foster²; Gordon D. McLaren⁵; Mark Speechley⁶ and John H. Eckfeldt²

¹ University Hospital, London, Ontario;
² University of Minnesota, Minneapolis, Minn.;
³ Southern Iron Disorders Center, Birmingham, Ala.;
⁴ University of Alabama, Birmingham, Ala.;
⁵ Veterans Affairs Long Beach Healthcare System, Long Beach, Calif.;
⁶ University of Western Ontario, London, Ontario

⁷ E-mail: padams{at}uwo.ca

Background—Previous studies have suggested a positive association of coronary heart disease (CHD) risk and both serum ferritin concentrations and C282Y heterozygosity. Relationships between serum lipids, C282Y homozygosity and serum ferritin have not been well established.

Methods and Results—The HEIRS Study screened 101,168 participants in primary care from 5 field centers in the US and Canada with serum ferritin, transferrin saturation (TS), and HFE genotyping for C282Y and H63D mutations. Serum lipids were measured in a subset of 176 C282Y homozygotes (63 male, 113 female Caucasians) without a prior diagnosis of, family history or treatment for hemochromatosis and a matched sample of participants with normal transferrin saturation and serum ferritin without C282Y or H63D mutations (wild type, 123 male, 189 female Caucasians). The proportion of subjects who reported using prescription cholesterol-lowering medications was approximately three times higher in HFE wild-type subjects than C282Y homozygotes among men (22% vs. 7%; p=0.003) and, in women, two times higher (16% vs. 8%; p=0.05). After excluding subjects taking cholesterol medications, C282Y homozygotes had significantly lower mean total and LDL-cholesterol concentrations than wild-type subjects, with larger genotypic differences for LDL in men (-0.62 mmol/L, 95% CI -0.93 to -0.33) than in women (-0.28 mmol/L, 95% CI -0.52 to -0.08).

Conclusions—Total mean serum cholesterol and LDL levels were lower in C282Y homozygotes than in HFE wild type participants. Further studies are required to determine if this is related to iron overload, to HFE alleles, or other factors on C282Y-positive chromosome 6p haplotypes.

Key Words: haemochromatosis • hemochromatosis • iron • iron overload

Related Article

HFE C282Y Homozygosity Is Associated With Lower Total and Low-Density Lipoprotein Cholesterol: The Hemochromatosis and Iron Overload Screening Study

Paul C. Adams, James S. Pankow, James C. Barton, Ron T. Acton, Cathie Leiendecker-Foster, Gordon D. McLaren, Mark Speechley, and John H. Eckfeldt
Circ Cardiovasc Genet 2009 2: 34-37. [Abstract] [Full Text] [PDF]

This article has been cited by other articles:

				J. L. Sullivan Letter by Sullivan Regarding Article, "HFE C282Y Homozygosity Is Associated With Lower Total and Low-Density Lipoprotein Cholesterol: the Hemochromatosis and Iron Overload Screening Study" Circ Cardiovasc Genet, June 1, 2009; 2(3): e1 - e1. [Full Text] [PDF]