SNP information rs1799945

Research and publications:

  8696333   A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

  8896550   Haemochromatosis and HLA-H.

  8943161   Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

  9106528   Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

  9326341   The significance of the 187G (H63D) mutation in hemochromatosis.

  9462220   A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.

  10673304   Incidence of liver disease in people with HFE mutations.

  11358905   Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

  11423500   Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

  11812557   Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

  11874997   A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

  11904676   Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?

  12429850   The hemochromatosis protein HFE inhibits iron export from macrophages.

  14673107   Contribution of the H63D mutation in HFE to murine 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.

  18194558   A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

  18199861   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.

  19237423   Is there an optimum endurance polygenic profile?

  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

  19554541   HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

  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.

  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.

  20435227   Clinical assessment incorporating a personal genome.

  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.

  20876667   Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

  21149283   Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.

  21208937   Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

  21540342   Genes and elite athletes: a roadmap for future research.

  21553046   Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.

  21679129   Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.

  21909115   Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

  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.

  22100073   Blood pressure loci identified with a gene-centric array.

  22125427   An overview of DNA repair in amyotrophic lateral sclerosis.

  22232660   Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.

  22408404   Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

  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.

  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.

  23792061   Meta-analyses of HFE variants in coronary heart 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.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24121126   Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin.

  24398642   Maternal iron levels early in pregnancy are not associated with offspring IQ score at age 8, findings from a Mendelian randomization study.

  24755831   A novel genetic score approach using instruments to investigate interactions between pathways and environment: application to air pollution.

  24798971   Plasma ferritin levels, HFE polymorphisms, and risk of pancreatic cancer among Chinese Han population.

  24825461   Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes.

  25071582   HFE gene variants, iron and lipids: a novel link in Alzheimer's disease.

  25112650   Testing deviation from additivity in the Tukey model using shrinkage: Application to longitudinal adjustment.

  25287020   Maternal iron metabolism gene variants modify umbilical cord blood lead levels by gene-environment interaction: a birth cohort study.

  25361584   Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26024779   Association of genetic variants with response to iron supplements in pregnancy.

  26025379   Genome-wide association study of toxic metals and trace elements reveals novel associations.

  26159428   Iron and hepcidin as risk factors in atherosclerosis: what do the genes say?

  26365338   Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

  26416403   HFE p.C282Y gene variant is associated with varicose veins in Russian population.

  26597663   Genetic factors influencing ferritin levels in 14,126 blood donors: results from the Danish Blood Donor Study.

  26695521   Is Mendelian Randomization the Key to Understanding Causal Aspects of Parkinson's Disease?

  26716680   Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes.

  26833210   Evaluation of pleiotropic effects among common genetic loci identified for cardio-metabolic traits in a Korean population.

  27221532   Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis.

  27255824   Determinants of iron accumulation in the normal aging brain.

  27280446   Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.

  27317329   Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

  27437086   Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

  27547017   Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.

  27584680   Lead-Related Genetic Loci, Cumulative Lead Exposure and Incident Coronary Heart Disease: The Normative Aging Study.

  27657935   Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls.

  27661980   The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.

  28151915   Minor variant of rs 16827043 in the iron regulator hemojuvelin gene (HJV) contributes to hypertension: The TAMRISK study.

  28684612   The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study-Brief Report.

  28820869   Necrotizing enterocolitis and high intestinal iron uptake due to genetic variants.

  29167213   Interaction of Dietary and Genetic Factors Influencing Body Iron Status and Risk of Type 2 Diabetes Within the EPIC-InterAct Study.

  29201641   Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.

  30409984   Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

  30536387   Genetic factors influencing hemoglobin levels in 15,567 blood donors: results from the Danish Blood Donor Study.

  30798813   Hemochromatosis: Hereditary hemochromatosis and HFE gene.

  31220083   Associations of genetically determined iron status across the phenome: A mendelian randomization study.

  31226389   Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration.

  31469255   A genome-wide association and replication study of blood pressure in Ugandan early adolescents.

  31824661   Iron Hack is a symposium/hackathon focusing on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.

  31970519   The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis.