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Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?
Immunogenetics. 2002 Mar; 53(12):1002-8.I

Abstract

The major histocompatibility complex (MHC) shows a remarkable conservation of particular HLA antigens and haplotypes in linkage disequilibrium in most human populations, suggesting the existence of a convergent evolution. A recent example of such conservation is the association of particular HLA haplotypes with the HFE mutations. With the objective of exploring the significance of that association, the present paper offers an analysis of the linkage disequilibrium between HLA alleles or haplotypes and the HFE mutations in a Portuguese population. Allele and haplotype associations between HLA and HFE mutations were first reviewed in a population of 43 hemochromatosis families. The results confirmed the linkage disequilibrium of the HLA haplotype HLA-A3-B7 and the HLA-A29 allele, respectively, with the HFE mutations C282Y and H63D. In order to extend the study of the linkage disequilibrium between H63D and the HLA-A29-containing haplotypes in a normal, random population, an additional sample of 398 haplotypes was analyzed. The results reveal significant linkage disequilibrium between the H63D mutation and all HLA-A29-containing haplotypes, favoring the hypothesis of a co-selection of H63D and the HLA-A29 allele itself. An insight into the biological significance of this association is given by the finding of significantly higher CD8(+) T-lymphocyte counts in subjects simultaneously carrying the H63D mutation and the HLA-A29 allele.

Authors+Show Affiliations

Molecular Immunology and Pathology, Abel Salazar Institute for the Biomedical Sciences, Lg. Prof. Abel Salazar 2, 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

11904676

Citation

Cardoso, Carla S., et al. "Co-selection of the H63D Mutation and the HLA-A29 Allele: a New Paradigm of Linkage Disequilibrium?" Immunogenetics, vol. 53, no. 12, 2002, pp. 1002-8.
Cardoso CS, Alves H, Mascarenhas M, et al. Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? Immunogenetics. 2002;53(12):1002-8.
Cardoso, C. S., Alves, H., Mascarenhas, M., Gonçalves, R., Oliveira, P., Rodrigues, P., Cruz, E., de Sousa, M., & Porto, G. (2002). Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? Immunogenetics, 53(12), 1002-8.
Cardoso CS, et al. Co-selection of the H63D Mutation and the HLA-A29 Allele: a New Paradigm of Linkage Disequilibrium. Immunogenetics. 2002;53(12):1002-8. PubMed PMID: 11904676.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? AU - Cardoso,Carla S, AU - Alves,Helena, AU - Mascarenhas,Mónica, AU - Gonçalves,Ricardo, AU - Oliveira,Pedro, AU - Rodrigues,Pedro, AU - Cruz,Eugénia, AU - de Sousa,Maria, AU - Porto,Graça, Y1 - 2002/02/06/ PY - 2001/08/29/received PY - 2001/11/26/revised PY - 2002/3/21/pubmed PY - 2002/5/1/medline PY - 2002/3/21/entrez SP - 1002 EP - 8 JF - Immunogenetics JO - Immunogenetics VL - 53 IS - 12 N2 - The major histocompatibility complex (MHC) shows a remarkable conservation of particular HLA antigens and haplotypes in linkage disequilibrium in most human populations, suggesting the existence of a convergent evolution. A recent example of such conservation is the association of particular HLA haplotypes with the HFE mutations. With the objective of exploring the significance of that association, the present paper offers an analysis of the linkage disequilibrium between HLA alleles or haplotypes and the HFE mutations in a Portuguese population. Allele and haplotype associations between HLA and HFE mutations were first reviewed in a population of 43 hemochromatosis families. The results confirmed the linkage disequilibrium of the HLA haplotype HLA-A3-B7 and the HLA-A29 allele, respectively, with the HFE mutations C282Y and H63D. In order to extend the study of the linkage disequilibrium between H63D and the HLA-A29-containing haplotypes in a normal, random population, an additional sample of 398 haplotypes was analyzed. The results reveal significant linkage disequilibrium between the H63D mutation and all HLA-A29-containing haplotypes, favoring the hypothesis of a co-selection of H63D and the HLA-A29 allele itself. An insight into the biological significance of this association is given by the finding of significantly higher CD8(+) T-lymphocyte counts in subjects simultaneously carrying the H63D mutation and the HLA-A29 allele. SN - 0093-7711 UR - https://www.unboundmedicine.com/medline/citation/11904676/Co_selection_of_the_H63D_mutation_and_the_HLA_A29_allele:_a_new_paradigm_of_linkage_disequilibrium L2 - https://dx.doi.org/10.1007/s00251-001-0414-8 DB - PRIME DP - Unbound Medicine ER -