Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia

ABSTRACT: A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis ("HH") and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the Antioquia population, it is not associated with any particular HLA haplotype, whereas the C282Y mutation is associated with HLA-A*03-B*07, this supporting a northern Spaniard ancestry.

• Autores: Rodríguez Padilla, Libia María; Giraldo Jiménez, Mabel Cristina; Velásquez Castrillón, Laura Isabel; Álvarez Botero, Cristiam Mauricio; García Moreno, Luis Fernando; Jiménez del Río, Marlene; Vélez Pardo, Carlos Alberto
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2015
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/33870
• Acceso en línea: https://hdl.handle.net/10495/33870; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415570/
• Palabra clave: Genes, MHC Class I; Genes MHC Clase I; hemocromatosis; Hemochromatosis; Antígenos HLA; HLA Antigens; Proteína de la Hemocromatosis; Hemochromatosis Protein
• Rights: openAccess
• License: http://creativecommons.org/licenses/by/2.5/co/