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

dc.creatorRodríguez Padilla, Libia María
dc.creatorGiraldo Jiménez, Mabel Cristina
dc.creatorVelásquez Castrillón, Laura Isabel
dc.creatorÁlvarez Botero, Cristiam Mauricio
dc.creatorGarcía Moreno, Luis Fernando
dc.creatorJiménez del Río, Marlene
dc.creatorVélez Pardo, Carlos Alberto
dc.date2023-03-10T22:08:39Z
dc.date2023-03-10T22:08:39Z
dc.date2015
dc.date.accessioned2024-04-23T18:08:53Z
dc.date.available2024-04-23T18:08:53Z
dc.identifier1415-4757
dc.identifierhttps://hdl.handle.net/10495/33870
dc.identifier10.1590/S1415-475738120140080
dc.identifier1678-4685
dc.identifierhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415570/
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/9230451
dc.descriptionABSTRACT: 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.
dc.descriptionCOL0008639
dc.format6
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherSociedade Brasileira de Genética
dc.publisherGrupo de Inmunología Celular e Inmunogenética
dc.publisherGrupo de Neurociencias de Antioquia
dc.publisherRibeirão Preto, Brasil
dc.relationGenet. Mol. Biol.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.subjectGenes, MHC Class I
dc.subjectGenes MHC Clase I
dc.subjecthemocromatosis
dc.subjectHemochromatosis
dc.subjectAntígenos HLA
dc.subjectHLA Antigens
dc.subjectProteína de la Hemocromatosis
dc.subjectHemochromatosis Protein
dc.titleAncestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


Este ítem pertenece a la siguiente institución