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

• Main Authors: Barton James C (Author), Acton Ronald T (Author)
• Format: Book
• Published: BMC, 2002-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>We wanted to quantify HLA-A and -B allele and haplotype frequencies in Alabama hemochromatosis probands with <it>HFE</it> C282Y homozygosity and controls, and to compare results to those in other populations.</p> <p>Methods</p> <p>Alleles were detected using DNA-based typing (probands) and microlymphocytotoxicity (controls).</p> <p>Results</p> <p>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; <it>p</it> =< 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 (<it>p</it> < 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).</p> <p>Conclusions</p> <p>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.</p>

Item Description

10.1186/1471-2350-3-9
1471-2350