ArticleGut1998
The significance of haemochromatosis gene mutations in the general population: implications for screening.
Article in Gut, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 222 citations in OpenAlex.
- Genetics of long-distance runners and road cyclists-A systematic review with meta-analysis.Scandinavian journal of medicine & science in sports · 2022Pooled it
- The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis.European journal of applied physiology · 2020Pooled it
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Interactive Effects between Chronic Lead Exposure and the Homeostatic Iron Regulator TransportInternational journal of environmental research and public health · 2019Article
- Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- The role of HFE genotype in macrophage phenotype.Journal of neuroinflammation · 2018Article
- Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.NeuroImage. Clinical · 2018Article
- Mice lacking liver-specific β-catenin develop steatohepatitis and fibrosis after iron overload.Journal of hepatology · 2017Article
- Haplotype Analysis of Hemochromatosis Gene Polymorphisms in Chronic Hepatitis C Virus Infection: A Case Control Study.Iranian Red Crescent medical journal · 2016Article
- HFE gene mutations increase the risk of coronary heart disease in women.European journal of epidemiology · 2010Article
- Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older men.Journal of Alzheimer's disease : JAD · 2010Article
- Hereditary haemochromatosis gene (HFE) H63D mutation shows an association with abnormal sperm motility.Molecular biology reports · 2009Article
- Nucleotide-binding oligomerization domain containing 1 (NOD1) haplotypes and single nucleotide polymorphisms modify susceptibility to inflammatory bowel diseases in a New Zealand caucasian population: a case-control study.BMC research notes · 2009Article
- Tumor necrosis factor receptor superfamily, member 1B haplotypes increase or decrease the risk of inflammatory bowel diseases in a New Zealand caucasian population.Gastroenterology research and practice · 2009Article
- Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk.World journal of gastroenterology · 2008Article
- IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.The pharmacogenomics journal · 2007Article
- Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.American journal of human genetics · 2007Article
- Screening in liver disease.World journal of gastroenterology · 2006Review
- A diagnostic approach to hemochromatosis.Canadian journal of gastroenterology = Journal canadien de gastroenterologie · 2006Review
- Pathophysiology of hereditary hemochromatosis.Seminars in liver disease · 2005Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHaemochromatosis is associated with mutations in the HFE gene but the significance of these mutations in the general population is unknown.
aimsTo determine the frequency of HFE gene mutations in the general population, their effect on serum iron indexes, and their role in screening for haemochromatosis.
methodsDeoxyribonucleic acid (DNA) from 1064 randomly selected subjects was analysed for the C282Y and H63D mutations in the HFE gene. Serum iron, transferrin saturation, and ferritin were measured and individuals with increased iron indexes were investigated to confirm or exclude a clinical diagnosis of haemochromatosis.
resultsMutations were identified in 409 individuals (38.4%) with heterozygote (carrier) frequencies of 13.2% and 24.3% for the C282Y and H63D mutations respectively. Heterozygosity for either mutation significantly increased serum iron and transferrin saturation but despite a similar trend for ferritin, this was only significant for C282Y homozygotes. Five individuals (0.47%) were homozygous for the C282Y mutation, three of whom had haemochromatosis confirmed by liver biopsy (0.28%). The other two C282Y homozygotes would not have been detected by phenotypic screening alone.
conclusionsHFE mutations are present in 38.4% of the population, affect serum iron indexes, and are important determinants of iron status. The population frequency of genetically defined haemochromatosis (C282Y homozygosity) is approximately one in 200 and is higher than the prevalence of clinically apparent haemochromatosis.
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