Normal allele: GG
Polymorphisms associated with disease risk Haemochromatosis is an inherited disease that causes the body to absorb too much iron, leading to iron deposition in the body and organ damage.
Polymorphism rs1800562 is related to topics like this:
Research and publications:
678784 Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis.
8696333 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
8896549 Haemochromatosis and HLA-H.
8896550 Haemochromatosis and HLA-H.
8931958 Mutation analysis in hereditary hemochromatosis.
8943161 Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
9024376 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
9138148 Global prevalence of putative haemochromatosis mutations.
9162021 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
9211748 Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.
9321765 Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
9341868 A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
9356458 Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
9439654 Phenotype-genotype correlation in haemochromatosis subjects.
9462220 A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.
9585606 The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.
9851896 Hemochromatosis in Ireland and HFE.
9851897 Celtic origin of the C282Y mutation of hemochromatosis.
10381492 The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.
10401000 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
10431233 Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.
10673304 Incidence of liver disease in people with HFE mutations.
11040194 Differential HFE allele expression in hemochromatosis heterozygotes.
11812557 Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.
12241803 Clinical haemochromatosis in HFE mutation carriers.
12429850 The hemochromatosis protein HFE inhibits iron export from macrophages.
12436244 Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.
12915468 Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
14618419 A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.
14729817 The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
15070663 Hemochromatosis mutations in the general population: iron overload progression rate.
15280838 Association of porphyria cutanea tarda with hereditary hemochromatosis.
15347835 The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.
15858186 Hemochromatosis and iron-overload screening in a racially diverse population.
16879202 Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.
18199861 Iron-overload-related disease in HFE hereditary hemochromatosis.
18414213 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
18499578 Iron-overload-related disease in HFE hereditary hemochromatosis.
18504828 Iron-overload-related disease in HFE hereditary hemochromatosis.
18566337 Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.
18603647 Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response
18795173 Variants in iron metabolism genes predict higher blood lead levels in young children.
19084217 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
19159930 Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
19165391 Iron metabolism genes, low-level lead exposure, and QT interval.
19401444 Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism
19444013 HFE-associated hereditary hemochromatosis.
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
19554541 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
19673882 A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
19820697 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
19820698 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
19820699 Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
19862010 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
19879291 Environmental manganese exposure in residents living near a ferromanganese refinery in Southeast Ohio: a pilot study.
19880490 A genome-wide association analysis of serum iron concentrations.
19884647 Air pollution, obesity, genes and cellular adhesion molecules
20110814 Air pollution and homocysteine: more evidence that oxidative stress-related genes modify effects of particulate air pollution.
20301613 HFE Hemochromatosis.
20556870 CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies
20659343 HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.
20846924 Altered cardiac repolarization in association with air pollution and air temperature among myocardial infarction survivors.
20858683 Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
20876667 Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.
20927387 A genome-wide association study of red blood cell traits using the electronic medical record.
21067572 Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy.
21149283 Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
21153663 Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.
21208937 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
21240526 Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review.
21400687 Disease and phenotype data at Ensembl.
21452290 Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.
21483845 Genome-wide association study identifies genetic loci associated with iron deficiency.
21665994 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
21679129 Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.
21785125 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice.
21862702 Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
21975967 Genetic determinants of variability in glycated hemoglobin (HbA(1c)) in humans: review of recent progress and prospects for use in diabetes care
21978626 Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.
22074419 Associations of iron metabolism genes with blood manganese levels: a population-based study with validation data from animal models.
22234866 Evidence from case-control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity.
22408404 Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
22540250 Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).
22611049 Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations.
22735619 Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.
22815867 Genetic determinants for body iron store and type 2 diabetes risk in US men and women.
23386860 Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
23389292 Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.
23446634 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
23468552 Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.
23792061 Meta-analyses of HFE variants in coronary heart disease.
23794717 Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study.
23820649 Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
23996192 Toenail iron, genetic determinants of iron status, and the risk of glioma.