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

Immunogenetics
C S CardosoGraça Porto

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...Continue Reading

Citations

Apr 30, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Subhashini ChandrasekharanRobert Cook-Deegan
Mar 3, 2005·Journal of Gastroenterology and Hepatology·Mario Gonzalez-HevillaAntonio Arnaiz-Villena
Oct 23, 2004·BMC Medical Genetics·Arantza PachoPablo Morales
Oct 27, 2006·Current Opinion in Ophthalmology·Dominique Monnet, Antoine P Brézin
Jul 20, 2006·Pediatric Hematology and Oncology·Carolyn HoppeElliott Vichinsky
Jan 26, 2010·Journal of Diabetes and Its Complications·Máikel L ColliLuis H Canani
Jan 18, 2006·Biochemical and Biophysical Research Communications·Carla S CardosoRui Medeiros
Jun 24, 2015·Scandinavian Journal of Immunology·Y M Mosaad
Jul 16, 2015·Journal of Genetics·Sandra TosteLicínio Manco
May 20, 2015·Genetics and Molecular Biology·Libia M RodriguezCarlos Velez-Pardo
Dec 6, 2018·Virchows Archiv : an International Journal of Pathology·Kathleen Madden, Devon Chabot-Richards

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