SNP information rs1800562

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.

  15060098   Synergy between the transferrin C2 allele and the C282Y allele of the hemochromatosis gene (HFE) as risk factors for the development of Alzheimer's disease.

  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

  20029940   Proposed synergy between TF and u200bu200bHFE genetic variants as risk factors for Alzheimer's disease.

  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.

  22047634   Alzheimer's Disease Neuroimaging Initiative: A review of articles published since its inception.

  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

  23935582   The effect of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases.

  23996192   Toenail iron, genetic determinants of iron status, and the risk of glioma.