Gene: LOC108783645

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: HFE

Alternate names for this Gene: HFE1|HH|HLA-H|MVCD7|TFQTL2

Gene Summary: The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.2

Description of this Gene: homeostatic iron regulator

Type of Gene: protein-coding

rs1800562 in LOC108783645;HFE gene and Alcohol consumption PMID 21665994 2011 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

rs1800702 in LOC108783645;HFE gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs1799945 in LOC108783645;HFE gene and Blood Pressure PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

PMID 22100073 2011 Blood pressure loci identified with a gene-centric array.

rs1799945 in LOC108783645;HFE gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

rs1799945 in LOC108783645;HFE gene and Diastolic blood pressure PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs1799945 in LOC108783645;HFE gene and Diastolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs1799945 in LOC108783645;HFE gene and Ferritin measurement PMID 28334935 2017 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?

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1799945 in LOC108783645;HFE gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

rs1800702 in LOC108783645;HFE gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

rs111033563 in LOC108783645;HFE gene and HEMOCHROMATOSIS, TYPE 1 PMID 10194428 1999 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PMID 10094552 1999 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PMID 9620340 1998 Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PMID 11446670 2001 Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

PMID 15046077 2004 Gene symbol: HFE. Disease: Haemochromatosis.

PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PMID 15965644 2005 Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.

PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.

PMID 12542741 2002 Comprehensive hereditary hemochromatosis genotyping.

PMID 12584229 2003 Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PMID 11423500 2001 Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PMID 12542741 2002 Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH.

PMID 15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PMID 10930379 2000 Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

PMID 14729817 2004 The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

PMID 8943161 1996 Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

PMID 21243428 2011 Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.

PMID 19176287 2009 Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.

PMID 22531912 2012 Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.

PMID 15858186 2005 Hemochromatosis and iron-overload screening in a racially diverse population.

PMID 11812557 2002 Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

PMID 23178241 2013 These results suggest that it may be useful to test for both HFE H63D and C282Y polymorphisms in patients with iron overload, as opposed to just genotyping for the C282Y SNP, which is customary in some healthcare centers.

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 18199861 2008 Iron-overload-related disease in HFE hereditary hemochromatosis.

PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

PMID 25767899 2015 Unusual retinopathy associated with hemochromatosis.

PMID 10381492 1999 The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

PMID 12436244 2002 Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.

PMID 9585606 1998 The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.

PMID 9341868 1997 A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

PMID 9321765 1997 Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

PMID 9356458 1997 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.

PMID 19159930 2009 A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis.

PMID 22909823 2012 G1691A factor V and G20210A FII mutations, acute ischemic stroke of unknown cause, and patent foramen ovale.

PMID 9569177 1998 Geographic distribution of the 20210 G to A prothrombin variant.

PMID 22023246 2012 Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon.

PMID 10406905 1999 Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.

PMID 24619398 2014 Prothrombin G20210A mutation is associated with young-onset stroke: the genetics of early-onset stroke study and meta-analysis.

PMID 19159930 2009 A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis.

PMID 25528068 2015 Prothrombin G20210A mutation is associated with recurrent pregnancy loss: a systematic review and meta-analysis update.

PMID 18199861 2008 Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation.

PMID 9531249 1998 Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.

PMID 9162021 1997 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

PMID 8916933 1996 A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

PMID 20723024 2010 Cytoplasmic stabilities of 3'UTR-polymorphic prothrombin mRNAs.

PMID 10477778 1999 The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.

PMID 11380448 2001 The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation.

PMID 9869612 1999 Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.

PMID 9694698 1998 A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

PMID 21452290 2011 Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.

PMID 9292507 1997 A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.

PMID 10027711 1999 The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease.

PMID 11583312 2001 Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism.

PMID 26365338 2015 Given the higher rate of HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-risk genotypes, in addition to other suggested actionable adult-onset genetic conditions, opportunistic screening should be considered for p.[Cys282Tyr];[Cys282Tyr] individuals with existing genomic data.

PMID 27124787 2016 The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 22021457 2011 Prothrombin 20210G>A genotype and C-reactive protein level.

PMID 10348711 1999 Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood.

PMID 15059842 2004 The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

rs1799945 in LOC108783645;HFE gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs1799945 in LOC108783645;HFE gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

rs1799945 in LOC108783645;HFE gene and Hemoglobin, CTCAE PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs1799945 in LOC108783645;HFE gene and Hereditary hemochromatosis PMID 11358905 2001 Additionally, we sequenced the HFE gene of H63D homozygotes with HH.

PMID 9162021 1997 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

PMID 11479183 2001 HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

PMID 11399207 2008 Contribution of different HFE genotypes to iron overload disease: a pooled analysis.

PMID 12429850 2002 The hemochromatosis protein HFE inhibits iron export from macrophages.

PMID 16132052 2005 The molecular genetics of haemochromatosis.

PMID 26365338 2015 Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

PMID 9356458 1997 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.

PMID 24729993 2014 Iron overload is rare in patients homozygous for the H63D mutation.

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 14673107 2003 Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

PMID 26153218 2016 EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

rs1799945 in LOC108783645;HFE gene and Hypertensive disease PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs2071303 in LOC108783645;HFE gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs1800562 in LOC108783645;HFE gene and Iron binding capacity total measurement PMID 28334935 2017 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?

PMID 21483845 2011 Genome-wide association study identifies genetic loci associated with iron deficiency.

rs1799945 in LOC108783645;HFE gene and Iron level result PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs1799945 in LOC108783645;HFE gene and Iron measurement PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs1800562 in LOC108783645;HFE gene and Low density lipoprotein cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1800562 in LOC108783645;HFE gene and Mean Corpuscular Volume (result) PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

rs1799945 in LOC108783645;HFE gene and Mean blood pressure PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs1800562 in LOC108783645;HFE gene and Mean corpuscular hemoglobin concentration determination PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs1800562 in LOC108783645;HFE gene and Osteoarthritis of hip PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

rs1799945 in LOC108783645;HFE gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1800562 in LOC108783645;HFE gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1799945 in LOC108783645;HFE gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs1799945 in LOC108783645;HFE gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1799945 in LOC108783645;HFE gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs1799945 in LOC108783645;HFE gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1800562 in LOC108783645;HFE gene and Serum LDL cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs1799945 in LOC108783645;HFE gene and Serum ferritin measurement PMID 28334935 2017 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?

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1799945 in LOC108783645;HFE gene and Serum iron measurement PMID 28334935 2017 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?

PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1800562 in LOC108783645;HFE gene and Serum total cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1800562 in LOC108783645;HFE gene and Serum transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1799945 in LOC108783645;HFE gene and Systolic Pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs1799945 in LOC108783645;HFE gene and Systolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs1800562 in LOC108783645;HFE gene and Total iron binding capacity function PMID 28334935 2017 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?

PMID 21483845 2011 Genome-wide association study identifies genetic loci associated with iron deficiency.

rs1800562 in LOC108783645;HFE gene and Transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1799945 in LOC108783645;HFE gene and Transferrin saturation measurement PMID 28334935 2017 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?

PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1800562 in LOC108783645;HFE gene and White Blood Cell Count procedure PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.