ArticleAmerican journal of human genetics2000
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.
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Who cites it
58 citing papers in PubMed, 3 syntheses or guidelines pooled it, 164 citations in OpenAlex.
- Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.Communications biology · 2022Pooled it
- Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.Human molecular genetics · 2011Pooled it
- Pooled it
- Biomarkers of body iron stores and risk of developing type 2 diabetes.Diabetes, obesity & metabolism · 2009Trial
- Article
- Comparison of the effects of high dietary iron levels on bone microarchitecture responses in the mouse strains 129/Sv and C57BL/6J.Scientific reports · 2024Article
- Factors associated with serum ferritin levels and iron excess: results from the EPIC-EurGast study.European journal of nutrition · 2022Article
- Associations of TMPRSS6 Polymorphisms with Gestational Diabetes Mellitus in Chinese Han Pregnant Women: a Preliminary Cohort Study.Biological trace element research · 2021Article
- Iron overload and cirrhosis in referredCanadian liver journal · 2020Article
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
- GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.Molecular nutrition & food research · 2019Review
- TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.International journal of molecular epidemiology and genetics · 2019Article
- Hemochromatosis (HFE) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy.AIDS research and human retroviruses · 2018Article
- Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?Human molecular genetics · 2017Article
- Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.PloS one · 2016Article
- Association Studies of HFE C282Y and H63D Variants with Oral Cancer Risk and Iron Homeostasis Among Whites and Blacks.Cancers · 2015Article
- Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis.Genes & nutrition · 2015Article
- Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.Nature communications · 2014Article
- Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin.Neurobiology of disease · 2014Article
- Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.PloS one · 2014Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
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.
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