HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama

BMC Medical Genetics

Ronald T Acton¹  James C Barton² 

[1] Immunogenetics Program, Department of Microbiology, and Department of Epidemiology and International Health, University of Alabama at Birmingham, Birmingham, Alabama, USA;Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA

关键词: population genetics;    iron overload;    iron;    hemochromatosis;    HLA;    HFE;    haplotype;    ancestral haplotype;    allele;   

Others  :  1178805
DOI  :  10.1186/1471-2350-3-9

 received in 2002-08-02, accepted in 2002-10-07,  发布年份 2002

【 摘 要 】

Background

We wanted to quantify HLA-A and -B allele and haplotype frequencies in Alabama hemochromatosis probands with HFE C282Y homozygosity and controls, and to compare results to those in other populations.

Methods

Alleles were detected using DNA-based typing (probands) and microlymphocytotoxicity (controls).

Results

Alleles were determined in 139 probands (1,321 controls) and haplotypes in 118 probands (605 controls). In probands, A*03 positivity was 0.7482 (0.2739 controls; p =< 0.0001; odds ratio (OR) 7.9); positivity for B*07, B*14, and B*56 was also increased. In probands, haplotypes A*03-B*07 and A*03-B*14 were more frequent (p < 0.0001, respectively; OR = 12.3 and 11.1, respectively). The haplotypes A*01-B*60, A*02-B*39, A*02-B*62, A*03-B*13, A*03-B*15, A*03-B*27, A*03-B*35, A*03-B*44, A*03-B*47, and A*03-B*57 were also significantly more frequent in probands. 37.3% of probands were HLA-haploidentical with other proband(s).

Conclusions

A*03 and A*03-B*07 frequencies are increased in Alabama probands, as in other hemochromatosis cohorts. Increased absolute frequencies of A*03-B*35 have been reported only in the present Alabama probands and in hemochromatosis patients in Italy. Increased absolute frequencies of A*01-B*60, A*02-B*39, A*02-B*62, A*03-B*13, A*03-B*15, A*03-B*27, A*03-B*44, A*03-B*47, and A*03-B*57 in hemochromatosis cohorts have not been reported previously.

【 授权许可】

   
2002 Barton and Acton; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.

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