Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?

• Type: Article in International Scientific Journal
• Date: 2002

Authors

Cardoso, CS (Author) Other; Alves, H (Author) Other; Mascarenhas, M (Author) Other; Goncalves, R (Author) Other; Oliveira, P (Author) Other; Rodrigues, P (Author) ICBAS; Cruz, E (Author) Other; de Sousa, M (Author) Other; Porto, G (Author) ICBAS

Journal

Title: Immunogenetics

Vol. 53

Pages: 1002-1008

ISSN: 0093-7711

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 24 Citations

Scopus - 29 Citations

Scientific classification

FOS: Medical and Health sciences > Basic medicine

Other information

Authenticus ID: P-000-Q4N

DOI: 10.1007/s00251-001-0414-8

Abstract (EN): 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 count, in subjects simultaneously carrying the H63D mutation and the HLA-A29 allele.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7