title: 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.
authors.affiliation: Grupo Inmunología Celular e Inmunogenética, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Libia M
authors.initials: LM
authors.lastname: Rodriguez
authors.affiliation: Grupo Inmunología Celular e Inmunogenética, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Mabel C
authors.initials: MC
authors.lastname: Giraldo
authors.affiliation: Grupo Inmunología Celular e Inmunogenética, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Laura I
authors.initials: LI
authors.lastname: Velasquez
authors.affiliation: Grupo Inmunología Celular e Inmunogenética, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Cristiam M
authors.initials: CM
authors.lastname: Alvarez
authors.affiliation: Grupo Inmunología Celular e Inmunogenética, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Luis F
authors.initials: LF
authors.lastname: Garcia
authors.affiliation: Grupo de Neurociencias, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Marlene
authors.initials: M
authors.lastname: Jimenez-Del-Rio
authors.affiliation: Grupo de Neurociencias, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
authors.forename: Carlos
authors.initials: C
authors.lastname: Velez-Pardo
keywords: C282Y; H63D; HFE gene; HLA class I genes; hereditary hemochromatosis