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Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.
Immunogenetics. 1998 Apr; 47(5):404-10.I

Abstract

The present study is an analysis of the frequencies of HFE mutations in patients with different forms of iron overload compared with the frequencies found in healthy subjects from the same region. The frequencies of HLA-A and -B antigens and HLA haplotypes were also analyzed in the same subjects. The study population included: 71 healthy individuals; 39 genetically and clinically well-characterized patients with genetic hemochromatosis (HH); and 25 patients with non-classical forms of iron overload (NCH), excluding secondary hemochromatosis. All subjects were HLA-typed and HFE-genotyped by the oligonucleotide ligation assay (OLA). The gene frequencies found for the C282Y and H63D mutations of HFE were respectively: 0.03 and 0.23 in healthy individuals, 0.86 and 0.04 in HH patients, and 0.08 and 0.48 in NCH patients. An expected significant association between HH and HLA-A3 was observed, which was found to be in linkage disequilibrium with the C282Y mutation. A new association was seen, however, between HLA-A29 and NCH, in linkage disequilibrium with the H63D mutation. Again as expected, the HLA-B antigen B7 was associated with HH in linkage disequilibrium with HLA-A3. In addition, the HLA-B antigen B44 was found to be associated with NCH but not in linkage disequilibrium with either A29 or the H63D mutation. In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than HH and a new association between the HLA phenotype A29 and the HFE H63D mutation were found in the same patients. These findings reinforce evidence for the involvement of the major histocompatibility class I in iron metabolism, supporting the notion of a physiological role for the immunological system in the regulation of iron load.

Authors+Show Affiliations

Santo António General Hospital, Largo do Prof. Abel Salazar, no.1, P-4050 Porto, Portugal.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9510559

Citation

Porto, G, et al. "Major Histocompatibility Complex Class I Associations in Iron Overload: Evidence for a New Link Between the HFE H63D Mutation, HLA-A29, and Non-classical Forms of Hemochromatosis." Immunogenetics, vol. 47, no. 5, 1998, pp. 404-10.
Porto G, Alves H, Rodrigues P, et al. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Immunogenetics. 1998;47(5):404-10.
Porto, G., Alves, H., Rodrigues, P., Cabeda, J. M., Portal, C., Ruivo, A., Justiça, B., Wolff, R., & De Sousa, M. (1998). Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Immunogenetics, 47(5), 404-10.
Porto G, et al. Major Histocompatibility Complex Class I Associations in Iron Overload: Evidence for a New Link Between the HFE H63D Mutation, HLA-A29, and Non-classical Forms of Hemochromatosis. Immunogenetics. 1998;47(5):404-10. PubMed PMID: 9510559.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. AU - Porto,G, AU - Alves,H, AU - Rodrigues,P, AU - Cabeda,J M, AU - Portal,C, AU - Ruivo,A, AU - Justiça,B, AU - Wolff,R, AU - De Sousa,M, PY - 1998/3/25/pubmed PY - 2001/2/28/medline PY - 1998/3/25/entrez SP - 404 EP - 10 JF - Immunogenetics JO - Immunogenetics VL - 47 IS - 5 N2 - The present study is an analysis of the frequencies of HFE mutations in patients with different forms of iron overload compared with the frequencies found in healthy subjects from the same region. The frequencies of HLA-A and -B antigens and HLA haplotypes were also analyzed in the same subjects. The study population included: 71 healthy individuals; 39 genetically and clinically well-characterized patients with genetic hemochromatosis (HH); and 25 patients with non-classical forms of iron overload (NCH), excluding secondary hemochromatosis. All subjects were HLA-typed and HFE-genotyped by the oligonucleotide ligation assay (OLA). The gene frequencies found for the C282Y and H63D mutations of HFE were respectively: 0.03 and 0.23 in healthy individuals, 0.86 and 0.04 in HH patients, and 0.08 and 0.48 in NCH patients. An expected significant association between HH and HLA-A3 was observed, which was found to be in linkage disequilibrium with the C282Y mutation. A new association was seen, however, between HLA-A29 and NCH, in linkage disequilibrium with the H63D mutation. Again as expected, the HLA-B antigen B7 was associated with HH in linkage disequilibrium with HLA-A3. In addition, the HLA-B antigen B44 was found to be associated with NCH but not in linkage disequilibrium with either A29 or the H63D mutation. In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than HH and a new association between the HLA phenotype A29 and the HFE H63D mutation were found in the same patients. These findings reinforce evidence for the involvement of the major histocompatibility class I in iron metabolism, supporting the notion of a physiological role for the immunological system in the regulation of iron load. SN - 0093-7711 UR - https://www.unboundmedicine.com/medline/citation/9510559/Major_histocompatibility_complex_class_I_associations_in_iron_overload:_evidence_for_a_new_link_between_the_HFE_H63D_mutation_HLA_A29_and_non_classical_forms_of_hemochromatosis_ L2 - https://dx.doi.org/10.1007/s002510050376 DB - PRIME DP - Unbound Medicine ER -