Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
10739755
TITLE
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.
ABSTRACT
The aim of this study was to assess and to compare the role of HFE polymorphisms and other genetic factors in variation in iron stores. Blood samples were obtained from 3,375 adult male and female twins (age range 29-82 years) recruited from the Australian Twin Registry. There were 1,233 complete pairs (562 monozygotic and 571 dizygotic twins). Serum iron, transferrin, transferrin saturation with iron, and ferritin were measured, and the HFE C282Y and H63D genotypes were determined. The frequency of the C282Y allele was.072, and that of the H63D allele was.141. Significant sources of variation in the indices of iron status included age, sex, age-sex interaction, body-mass index, and both the C282Y and H63D genotypes. The iron, transferrin, and saturation values of CC and CY subjects differed significantly, but the ferritin values did not. After correction for age and body-mass index, 23% and 31% of the variance in iron, 66% and 49% of the variance in transferrin, 33% and 47% of the variance in transferrin saturation, and 47% and 47% of the variance in ferritin could be explained by additive genetic factors, for men and women, respectively. HFE C282Y and H63D variation accounted for <5% of the corrected phenotypic variance, except for saturation (12% in women and 5% in men). We conclude that HFE CY and HD heterozygotes differ in iron status from the CC and HH homozygotes and that serum transferrin saturation is more affected than is serum ferritin. There are highly significant effects of other as-yet-unidentified genes on iron stores, in addition to HFE genotype.
DATE PUBLISHED
2000 Apr
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2000/03/31 09:00
medline 2000/06/03 09:00
received 1999/00/29
accepted 2000/00/31
aheadofprint 2000/00/15
entrez 2000/03/31 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Whitfield JB Whitfield J B JB Biochemistry Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia. johnwhit@bioc.rpa.cs.nsw.gov.au
Cullen LM Cullen L M LM
Jazwinska EC Jazwinska E C EC
Powell LW Powell L W LW
Heath AC Heath A C AC
Zhu G Zhu G G
Duffy DL Duffy D L DL
Martin NG Martin N G NG
INVESTIGATORS
JOURNAL
VOLUME: 66
ISSUE: 4
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 2000
MONTH: Apr
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-9297
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, U.S. Gov't, P.H.S.
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
AA10249 NIAAA NIH HHS United States
AA11998 NIAAA NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Age Factors
Alleles
Amino Acid Substitution genetics
Australia genetics
Biological Transport genetics
Body Mass Index genetics
Environment genetics
Ethnic Groups genetics
Female genetics
Ferritins metabolism
Gene Frequency metabolism
Genetic Variation genetics
Genotype genetics
HLA Antigens genetics
Haplotypes genetics
Histocompatibility Antigens Class I genetics
Humans genetics
Iron metabolism
Male metabolism
Membrane Proteins metabolism
Middle Aged metabolism
Polymorphism, Genetic genetics
Sex Factors genetics
Statistics as Topic genetics
Transferrin metabolism
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 HFE protein, human
0 HLA Antigens
0 Histocompatibility Antigens Class I
0 Membrane Proteins
0 Transferrin
9007-73-2 Ferritins
E1UOL152H7 Iron
OTHER ID's
OTHERID SOURCE
PMC1288192 NLM