openSNP | rs1799945

Links to SNPedia

Title	Summary
rs1799945 G/G	Two copies of h63d, likely affected by mild form of hemochromatosis
rs1799945 C/C	Not a h63d hemochromatosis carrier.
rs1799945 C/G	One copy of h63d, carrier of hemochromatosis, likely unaffected unless also c282y carrier.

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Guangqin Fan	The Effect of the Hemochromatosis (HFE) Genotype on Lead Load and Iron Metabolism among Lead Smelter Workers	2014	1308
Irene Pichler	Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study	2013	25510
Meian He	Genetic Determinants for Body Iron Store and Type 2 Diabetes Risk in US Men and Women	2012	3037
Seungbok Lee	Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis	2013	3746
Pallav Bhatnagar	Genome-Wide Meta-Analysis of Systolic Blood Pressure in Children with Sickle Cell Disease	2013	3048
Marie-Abele Bind	A Novel Genetic Score Approach Using Instruments to Investigate Interactions between Pathways and Environment: Application to Air Pollution	2014	2386
Satu Hämäläinen	Genetic Influences on Hand Osteoarthritis in Finnish Women – A Replication Study of Candidate Genes	2014	2140
Vivian Dionisio Tavares Niewiadonski	Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors	2015	838
Claudia C. Branco	Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal)	2015	766
Rebecca Grealy	Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes	2015	4679
Stela McLachlan	Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans	2016	2030

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
D C Greenwood	HFE genotype modifies the influence of heme iron intake on iron status.	2005	3	10.1097/01.ede.0000181306.85583.ea
Alena Buretić-Tomljanović	The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men.	2009	3	10.1016/j.fertnstert.2008.02.129
Mehran Karimi	Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous.	2004	2	10.1038/sj.thj.6200553
Valentina Greco	Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in Southern Italy.	2011	1	10.1007/s10072-011-0504-9
Domenico Lio	Association between the HLA-DR alleles and longevity: A study in Sardinian population	2003	3	10.1016/S0531-5565(02)00178-X
Joanna Raszeja-Wyszomirska	HFE gene mutations in patients with alcoholic liver disease A prospective study from northwestern Poland	2010	1
Katherine A McGlynn	Hemochromatosis gene mutations and distal adenomatous colorectal polyps.	2005	1
A S Rosvik	Effect of iron supplementation on iron status during the first week after blood donation	2010	2	10.1111/j.1423-0410.2009.01270.x
Irene Pichler	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	2011	15	10.1093/hmg/ddq552
R Moirand	Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives.	1999	2	10.1016/S0016-5085(99)70134-4
M Pirisi	Carriage of HFE mutations and outcome of surgical resection for hepatocellular carcinoma in cirrhotic patients.	2000	1	10.1002/1097-0142(20000715)89:2<297::AID-CNCR14>3.0.CO;2-N
Douglas A Corley	Hemochromatosis gene status as a risk factor for Barrett's esophagus.	2008	4	10.1007/s10620-008-0287-x
Innocenzo Rainero	Prevalence of HFE (hemochromatosis) gene mutations in patients with cluster headache.	2005	3	10.1111/j.1526-4610.2005.00245.x
M Angeles Martínez-García	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.	2009	8	10.2337/dc09-0420
Wouter van Rheenen	H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis	2013	4	10.1016/j.neurobiolaging.2012.07.020
Robert O Wright	Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study.	2004	9	10.1289/ehp.6581
D J Lehmann	Iron genes, iron load and risk of Alzheimer's disease.	2006	7	10.1136/jmg.2006.040519
Smiljana Ristić	Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.	2005	2	10.1016/j.neulet.2005.04.045
John B Whitfield	Evidence of genetic effects on blood lead concentration.	2007	7	10.1289/ehp.8847
R T Calado	HFE gene mutations in coronary atherothrombotic disease.	2000	3	10.1590/S0100-879X2000000300007
Antonio Agudo	Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.	2013	3	10.1093/carcin/bgt045
Michele Curcio	Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination.	2008	2	10.1111/j.1600-0609.2007.01025.x
Marianne R Hopkins	Variants in iron metabolism genes predict higher blood lead levels in young children.	2008	10	10.1289/ehp.11233
Peter A Gochee	A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.	2002	8	10.1016/S0016-5085(02)80116-0
Daphne L van der A	HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women.	2006	2	10.1016/j.numecd.2005.07.008
J E Cade	Diet and genetic factors associated with iron status in middle-aged women	2005	1
Vanessa Chambers	Haemochromatosis-associated HFE genotypes in English blood donors: age-related frequency and biochemical expression.	2003	2	10.1016/S0168-8278(03)00471-9
Joseph F Pulliam	Association of HFE mutations with neurodegeneration and oxidative stress in Alzheimer's disease and correlation with APOE.	2003	6	10.1002/ajmg.b.10069
L Halme	HFE haemochromatosis gene mutations in liver transplant patients.	2001	1	10.1080/003655201750313432
Andreas Erhardt	HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis.	2003	4	10.1016/S0168-8278(03)80742-0
Jill Waalen	Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center.	2002	4	10.1016/S0002-9343(02)01249-4
Omer T Njajou	A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism.	2003	5	10.1038/sj.ejhg.5200955
Jiangfang Lian	Meta-analyses of HFE variants in coronary heart disease.	2013	1	10.1016/j.gene.2013.06.034
G. W. Montgomery	PNAS Plus: Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene	2012	21	10.1073/pnas.1105543109
S Campbell	The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease.	2003	7	10.1136/heart.89.9.1023
Cizao Ren	Air pollution and homocysteine: more evidence that oxidative stress-related genes modify effects of particulate air pollution.	2010	11	10.1097/EDE.0b013e3181cc8bfc
Tatiana V Kondrashova	Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers.	2006	2	10.1016/j.bbadis.2005.09.003
Neda Jahanshad	Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.	2012	17	10.1073/pnas.1105543109
Birgitta Stegmayr	Iron Stores and HFE Genotypes Are Not Related to Increased Risk of Ischemic Stroke	2007	1	10.1159/000108429
Claire Borie	Association study between iron-related genes polymorphisms and Parkinson's disease.	2002	14	10.1007/s00415-002-0704-6
Rita J Guerreiro	Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.	2006	10	10.1186/1471-2377-6-24
L Bathum	Association of mutations in the hemochromatosis gene with shorter life expectancy.	2001	5	10.1001/archinte.161.20.2441
Daniel Berlin	Evaluation of HFE (hemochromatosis) mutations as genetic modifiers in sporadic AD and MCI.	2004	2	10.1016/j.neurobiolaging.2003.06.008
Ernest Beutler	Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry.	2003	6	10.1046/j.1365-2141.2003.04215.x
Ernest Beutler	Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.	2002	20	10.1016/S0140-6736(02)07447-0
P C Adams	Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors.	2000	5	10.1053/he.2000.6984
Marie-Christine Vantyghem	Phenotype and HFE genotype in a population with abnormal iron markers recruited from an Endocrinology Department.	2006	1	10.1530/eje.1.02152
K Kanková	Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population.	2002	2	10.1055/s-2002-33071
Irene Pichler	Serum iron levels and the risk of Parkinson disease: a mendelian randomization study.	2013	14	10.1371/journal.pmed.1001462
A Bettencourt	HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis.	2011	3	10.1111/j.1468-1331.2010.03109.x
Lukás Pácal	HFE C282Y gene variant is a risk factor for the progression to decompensated liver disease in chronic viral hepatitis C subjects in the Czech population.	2007	2	10.1111/j.1872-034X.2007.00118.x
Giuseppina Candore	Association between the HFE mutations and unsuccessful ageing: a study in Alzheimer's disease patients from Northern Italy.	2003	1	10.1016/S0047-6374(03)00031-9
Claudia Gundacker	Genetic background of lead and mercury metabolism in a group of medical students in Austria.	2009	22	10.1016/j.envres.2009.05.003
Zumin Shi	Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.	2009	4	10.1002/ijc.24304
I R Gunn	Haemochromatosis gene mutations and risk of coronary heart disease: a west of Scotland coronary prevention study (WOSCOPS) substudy.	2004	5	10.1136/hrt.2003.015149
Mayka Sánchez	Population screening for hemochromatosis: a study in 5370 Spanish blood donors.	2003	1	10.1016/S0168-8278(03)00123-5
Jason Samarasena	Individuals homozygous for the H63D mutation have significantly elevated iron indexes.	2006	2	10.1007/s10620-006-3210-3
Ciriaco Carru	Association between the HFE mutations and longevity: a study in Sardinian population.	2003	4	10.1016/S0047-6374(03)00032-0
Kim Ekblom	Iron stores and HFE genotypes are not related to increased risk of first-time myocardial infarction: a prospective nested case-referent study.	2011	2	10.1016/j.ijcard.2010.04.001
Lu Qi	HFE genetic variability, body iron stores, and the risk of type 2 diabetes in U.S. women.	2005	8	10.2337/diabetes.54.12.3567
S G Gehrke	Hemochromatosis and transferrin receptor gene polymorphisms in chronic hepatitis C: impact on iron status, liver injury and HCV genotype	2003	1	10.1007/s00109-003-0493-0
J E Nelson	Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations	2012	1
Christine E McLaren	Mixture models of serum iron measures in population screening for hemochromatosis and iron overload.	2006	1	10.1016/j.trsl.2006.05.006
Rolf Vaern Andersen	Hemochromatosis mutations in the general population: iron overload progression rate.	2004	13	10.1182/blood-2003-10-3564
Marco De Gobbi	Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience.	2004	2
J Grove	Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.	1998	4	10.1136/gut.43.2.262
Dirk Claeys	Haemochromatosis mutations and ferritin in myocardial infarction: a case-control study.	2002	2	10.1046/j.1365-2362.2002.0320s1003.x
María Solanas-Barca	Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia.	2009	4	10.1016/S1567-5688(09)71380-7
Santhi K Ganesh	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	2009	47	10.1038/ng.466
E Rossi	Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women.	2000	3
L Blázquez	Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population.	2007	5	10.1016/j.neurobiolaging.2006.08.009
P Holmström	Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.	2002	3	10.1136/gut.51.5.723
Ronald T Acton	Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study.	2006	8	10.2337/dc05-1592
Ling Nie	HFE genotype and iron metabolism in Chinese patients with myelodysplastic syndromes and aplastic anemia.	2010	1	10.1007/s00277-010-1016-z
X He	H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China.	2011	3	10.1111/j.1468-1331.2010.03158.x
Mark Speechley	Potential nonresponse bias in a clinical examination after initial screening using iron phenotyping and HFE genotyping in the hemochromatosis and iron overload screening study.	2009	2	10.1089/gtmb.2009.0003
Palle Pedersen	Extrinsic factors modifying expressivity of the HFE variant C282Y, H63D, S65C phenotypes in 1,294 Danish men.	2009	5	10.1007/s00277-009-0714-x
B B Yeap	The C282Y polymorphism of the hereditary hemochromatosis gene is associated with increased sex hormone-binding globulin and normal testosterone levels in men.	2010	1	10.3275/6864
Daniel V Møller	Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.	2010	6	10.1186/1471-2350-11-117
P Ropero Gradilla	C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.	2001	1
E F Goodall	Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.	2005	5	10.1212/01.wnl.0000176032.94434.d4
Rute Martins	The role of HFE mutations on iron metabolism in beta-thalassemia carriers.	2004	5	10.1007/s10038-004-0202-z
I Rainero	Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.	2007	5	10.1111/j.1468-2982.2006.01231.x
J B Whitfield	Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.	2000	11	10.1086/302862
David Cantonwine	HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.	2010	8	10.1186/1476-069X-9-43
Anne Hege Aamodt	Prevalence of haemochromatosis gene mutations in Parkinson's disease.	2007	6	10.1136/jnnp.2006.101352
Ana Paula Correia	CAT53 and HFE alleles in Alzheimer's disease: a putative protective role of the C282Y HFE mutation.	2009	3	10.1016/j.neulet.2009.03.088
Alfonso Buil	Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women	2011	7	10.1186/1743-7075-8-69
P Ropero	The H63D mutation of the HFE gene is related to the risk of hepatocellular carcinoma	2007	1
Enrico Rossi	Expression of the HFE hemochromatosis gene in a community-based population of elderly women.	2004	3	10.1111/j.1440-1746.2004.03436.x
C Ellervik	Hereditary hemochromatosis genotypes and risk of ischemic stroke.	2007	7	10.1212/01.wnl.0000257814.77115.d6
Christopher J Fox	Effects of body iron stores and haemochromatosis genotypes on coronary heart disease outcomes in the Busselton health study.	2002	4	10.1097/00043798-200210000-00010
Dermot Gleeson	HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls.	2006	2	10.1111/j.1572-0241.2006.00439.x
Sung Kyun Park	Iron metabolism genes, low-level lead exposure, and QT interval.	2009	8	10.1289/ehp.11559
D K Moczulski	Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.	2001	8	10.2337/diacare.24.7.1187
C M Florkowski	Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population.	1999	1	10.1016/S0168-8227(98)00129-6
Sung Kyun Park	HFE genotype, particulate air pollution, and heart rate variability: a gene-environment interaction.	2006	6	10.1161/CIRCULATIONAHA.106.643197
R F Franco	Prevalence of hereditary haemochromatosis in premature atherosclerotic vascular disease.	1998	1
Victória Bérez	Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population.	2005	3	10.1016/j.cccn.2004.10.020
James E Nelson	Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations.	2012	4	10.1002/hep.25856

Evidence compiled by the Personal Genome Project

Gene	Impact	Trait	Summary	Inheritance
HFE	Low clinical importance, Uncertain pathogenic	HFE-Associated Hereditary Hemochromatosis	There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.	recessive

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Pichler I	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	Hum Mol Genet	01/04/2011	Iron levels	3.0e-09 (iron)	[3.30-6.60] ug/dl decrease
Ehret GB	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Nature	09/11/2011	Systolic blood pressure	8.0e-12	[NR] mmHg increase

Name	rs1799945
Chromosome	6
Position	26090951
Weight of evidence	174

SNP rs1799945

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts