Genetics and Molecular Biology | |
Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia | |
Libia M Rodriguez1  Mabel C Giraldo1  Laura I Velasquez1  Cristiam M Alvarez1  Luis F Garcia1  Marlene Jimenez-del-rio1  Carlos Velez-pardo1  | |
关键词: hereditary hemochromatosis; HLA class I genes; HFE gene; H63D; C282Y; | |
DOI : 10.1590/S1415-475738120140080 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
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