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Rodriguez LM, Giraldo MC, Velasquez LI, et al. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia. Genet Mol Biol. 2014;38(1):8-13doi: 10.1590/S1415-475738120140080.
Rodriguez, L. M., Giraldo, M. C., Velasquez, L. I., Alvarez, C. M., Garcia, L. F., Jimenez-Del-Rio, M., & Velez-Pardo, C. (2015). Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia. Genetics and molecular biology, 38(1), 8-13. https://doi.org/10.1590/S1415-475738120140080
Rodriguez, Libia M, et al. "Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia." Genetics and molecular biology vol. 38,1 (2015): 8-13. doi: https://doi.org/10.1590/S1415-475738120140080
Rodriguez LM, Giraldo MC, Velasquez LI, Alvarez CM, Garcia LF, Jimenez-Del-Rio M, Velez-Pardo C. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia. Genet Mol Biol. 2015 Mar;38(1):8-13. doi: 10.1590/S1415-475738120140080. Epub 2014 Mar 17. PMID: 25983618; PMCID: PMC4415570.
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Genet Mol Biol. 2015 Mar;38(1):8-13. doi: 10.1590/S1415-475738120140080. Epub 2014 Mar 17.

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

Genetics and molecular biology

Libia M Rodriguez, Mabel C Giraldo, Laura I Velasquez, Cristiam M Alvarez, Luis F Garcia, Marlene Jimenez-Del-Rio, Carlos Velez-Pardo

Affiliations

  1. Grupo Inmunología Celular e Inmunogenética, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .
  2. Grupo de Neurociencias, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia .

PMID: 25983618 PMCID: PMC4415570 DOI: 10.1590/S1415-475738120140080

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.

Keywords: C282Y; H63D; HFE gene; HLA class I genes; hereditary hemochromatosis

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