ArticleHuman genetics2004
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Biobank participants' perspectives on receiving genetic risk information from a biobank - the case of haemochromatosis.BMC medical genomics · 2025Article
- Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.Genome medicine · 2025Article
- Frequency Evaluation of theInternational journal of molecular sciences · 2023Article
- Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis.Biomedical reports · 2022Article
- Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.PloS one · 2018Article
- Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.NeuroImage. Clinical · 2018Article
- The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.Immunity, inflammation and disease · 2017Review
- Pathogenic implications of distinct patterns of iron and zinc in chronic MS lesions.Acta neuropathologica · 2017Article
- Human Leukocyte Antigen (HLA) and Immune Regulation: How Do Classical and Non-Classical HLA Alleles Modulate Immune Response to Human Immunodeficiency Virus and Hepatitis C Virus Infections?Frontiers in immunology · 2017Review
- The conundrum of iron in multiple sclerosis--time for an individualised approach.Metabolic brain disease · 2012Review
- Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis.BMC medical genetics · 2012Article
- Dupuytren's Contracture in Alabama HFE Hemochromatosis Probands.Clinical medicine insights. Arthritis and musculoskeletal disorders · 2012Article
- Glutamate-mediated primary somatosensory cortex excitability correlated with circulating copper and ceruloplasmin.International journal of Alzheimer's disease · 2011Article
- Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians.Genes and immunity · 2008Article
- Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.BMC medical genetics · 2008Article
- Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population.BMC genetics · 2007Article
- Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients.Immunogenetics · 2007Article
- The big idea: iron-dependent inflammation in venous disease and proposed parallels in multiple sclerosis.Journal of the Royal Society of Medicine · 2006Review
- Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis.Metabolic brain disease · 2006Article
- Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data.Human genetics · 2006Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to resolve a multiple sclerosis (MS) susceptibility locus that we had identified in earlier work at the telomeric end of the HLA complex, we genotyped another 34 microsatellite markers (47 in total) across the class I/extended class I region in 166 Tasmanian MS case and 104 control families (D6S299-D6S265). Extended MS susceptibility haplotypes, up to 9 Mb in length, were observed in 11% of MS cases and 4% of controls. Direct comparison of the telomerically extended portion of the MS susceptibility haplotype in HFE-Cys282Tyr (C282Y)-homozygous haemochromatosis patients identified a common ancestry for this genomic segment, which translated into an increased frequency of the C282Y allele in 489 MS cases from Tasmania and Victoria (10.2%) compared with controls (6.7%). Six C282Y homozygotes (1.2%), a three-fold increased rate over the general population, and 88 heterozygotes (18%) were identified. One C282Y-homozygous female was identified who had MS and was being treated for symptoms of iron overload. Interestingly, for 71 Victorian MS cases not of north western European (NWE) ancestry, a DR15-independent reduction in the frequency of the C282Y allele was observed, supporting the theory of a NWE origin for the C282Y-variant of the DR15 ancestral haplotype (C282Y-HLA-A*0301-B*0702-DRB1*1501-DQB1*0602). The results of linkage disequilibrium (LD) and log linear modelling analyses suggest that C282Y is increased in MS cases of NWE ancestry because it is in LD with the ancestral DR15 susceptibility haplotype (7.1) and that it does not play an independent role in predisposition to MS. However, our findings provide the impetus for further investigations into the role of iron metabolism in the severity of MS.
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