Document Detail


HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study.
MedLine Citation:
PMID:  20031565     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Previous studies have suggested a positive association of coronary heart disease 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 Hemochromatosis and Iron Overload Screening study screened 101 168 participants in primary care from 5 field centers in the United States and Canada with serum ferritin, transferrin saturation, and HFE genotyping for C282Y and H63D mutations. Serum lipids were measured in a subset of 176 C282Y homozygotes (63 male, 113 female whites) 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 whites). The proportion of subjects who reported using prescription cholesterol-lowering medications was approximately 3 times higher in HFE wild-type subjects than C282Y homozygotes among men (22% versus 7%; P=0.02) and, in women, 2 times higher (16% versus 8%; P=0.07). After excluding subjects taking cholesterol medications, C282Y homozygotes had significantly lower mean total and low-density lipoprotein cholesterol concentrations than wild-type subjects, with larger genotypic differences for low-density lipoprotein 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 low-density lipoprotein levels were lower in C282Y homozygotes than in HFE wild-type participants. Further studies are required to determine whether this is related to iron overload, HFE alleles, or other factors on C282Y-positive chromosome 6p haplotypes.
Authors:
Paul C Adams; James S Pankow; James C Barton; Ron T Acton; Cathie Leiendecker-Foster; Gordon D McLaren; Mark Speechley; John H Eckfeldt
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2009-01-23
Journal Detail:
Title:  Circulation. Cardiovascular genetics     Volume:  2     ISSN:  1942-3268     ISO Abbreviation:  Circ Cardiovasc Genet     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-12-24     Completed Date:  2010-03-02     Revised Date:  2010-03-11    
Medline Journal Info:
Nlm Unique ID:  101489144     Medline TA:  Circ Cardiovasc Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  34-7     Citation Subset:  IM    
Affiliation:
Department of Medicine, University Hospital, London, Ontario, Canada. padams@uwo.ca
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Alleles
Amino Acid Substitution*
Female
Ferritins / blood
Genetic Predisposition to Disease
Haplotypes
Hemochromatosis / genetics*
Histocompatibility Antigens Class I / genetics*
Homozygote
Humans
Iron Overload / genetics*
Lipoproteins, LDL / blood*
Male
Mass Screening
Membrane Proteins / genetics*
Middle Aged
Polymorphism, Single Nucleotide
Transferrin / metabolism
Grant Support
ID/Acronym/Agency:
M01-RR00032/RR/NCRR NIH HHS; M01-RR00827/RR/NCRR NIH HHS; M01-RR10284/RR/NCRR NIH HHS; N01-C05189//PHS HHS; N01-C05192//PHS HHS; N01-CM-07003-74/CM/NCI NIH HHS; N01-HC05185/HC/NHLBI NIH HHS; N01-HC05186/HC/NHLBI NIH HHS; N01-HC05188/HC/NHLBI NIH HHS; N01-HC05190/HC/NHLBI NIH HHS; N01-HC05191/HC/NHLBI NIH HHS; UH1-HL03679-05/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Lipoproteins, LDL; 0/Membrane Proteins; 11096-37-0/Transferrin; 9007-73-2/Ferritins
Comments/Corrections
Comment In:
Circ Cardiovasc Genet. 2009 Jun;2(3):e1   [PMID:  20031587 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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