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HLA haplotypes associated with hemochromatosis mutations in the Spanish population.
BMC Med Genet. 2004 Oct 21; 5:25.BM

Abstract

BACKGROUND

The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation.

METHODS

The study population includes: 1123 healthy individuals, 100 homozygous for the C282Y mutation, 138 homozygous for the H63D mutation and 17 heterozygous for the S65C mutation. HFE and HLA alleles were detected using DNA-based and microlymphocytotoxicity techniques respectively.

RESULTS

An expected significant association between C282Y and the HLA-A3/B7 haplotype was found, but other HLA haplotypes carrying the -A3 antigen were found: HLA-A3/B62 and HLA-A3/B44. Also, a significant association between H63D mutation and HLA-A29/B44 haplotype was found, and again other HLA haplotypes carrying the HLA-A29 antigen were also found: HLA-A29/B14 and HLA-A29/B62. In addition, the S65C mutation seems to be associated with a HLA haplotype carrying the HLA-A26 antigen.

CONCLUSION

These findings clearly suggest that HLA-A3/B7 and HLA-A29/B44 are the ancestral haplotypes from which the C282Y and H63D mutations originated, respectively. The frequencies of these mutations in different populations, their geographical distribution, and the degree of the statistical association to the ancestral haplotypes, suggest that the H63D mutation must have occurred earlier than the C282Y mutation.

Authors+Show Affiliations

Immunology, Hospital Universitario 12 de Octubre, Carretera de Andalucia, 28041, Madrid, Spain. arantzapacho@yahoo.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15498100

Citation

Pacho, Arantza, et al. "HLA Haplotypes Associated With Hemochromatosis Mutations in the Spanish Population." BMC Medical Genetics, vol. 5, 2004, p. 25.
Pacho A, Mancebo E, del Rey MJ, et al. HLA haplotypes associated with hemochromatosis mutations in the Spanish population. BMC Med Genet. 2004;5:25.
Pacho, A., Mancebo, E., del Rey, M. J., Castro, M. J., Oliver, D., García-Berciano, M., González, L., & Morales, P. (2004). HLA haplotypes associated with hemochromatosis mutations in the Spanish population. BMC Medical Genetics, 5, 25.
Pacho A, et al. HLA Haplotypes Associated With Hemochromatosis Mutations in the Spanish Population. BMC Med Genet. 2004 Oct 21;5:25. PubMed PMID: 15498100.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - HLA haplotypes associated with hemochromatosis mutations in the Spanish population. AU - Pacho,Arantza, AU - Mancebo,Esther, AU - del Rey,Manuel J, AU - Castro,Maria J, AU - Oliver,Desamparados, AU - García-Berciano,Miguel, AU - González,Luis, AU - Morales,Pablo, Y1 - 2004/10/21/ PY - 2004/05/12/received PY - 2004/10/21/accepted PY - 2004/10/23/pubmed PY - 2004/12/16/medline PY - 2004/10/23/entrez SP - 25 EP - 25 JF - BMC medical genetics JO - BMC Med Genet VL - 5 N2 - BACKGROUND: The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS: The study population includes: 1123 healthy individuals, 100 homozygous for the C282Y mutation, 138 homozygous for the H63D mutation and 17 heterozygous for the S65C mutation. HFE and HLA alleles were detected using DNA-based and microlymphocytotoxicity techniques respectively. RESULTS: An expected significant association between C282Y and the HLA-A3/B7 haplotype was found, but other HLA haplotypes carrying the -A3 antigen were found: HLA-A3/B62 and HLA-A3/B44. Also, a significant association between H63D mutation and HLA-A29/B44 haplotype was found, and again other HLA haplotypes carrying the HLA-A29 antigen were also found: HLA-A29/B14 and HLA-A29/B62. In addition, the S65C mutation seems to be associated with a HLA haplotype carrying the HLA-A26 antigen. CONCLUSION: These findings clearly suggest that HLA-A3/B7 and HLA-A29/B44 are the ancestral haplotypes from which the C282Y and H63D mutations originated, respectively. The frequencies of these mutations in different populations, their geographical distribution, and the degree of the statistical association to the ancestral haplotypes, suggest that the H63D mutation must have occurred earlier than the C282Y mutation. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/15498100/HLA_haplotypes_associated_with_hemochromatosis_mutations_in_the_Spanish_population_ L2 - https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-5-25 DB - PRIME DP - Unbound Medicine ER -