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

Genetics and Molecular Biology

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】

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