期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 30, 期 1, 页码 138-143出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-009-9336-2
关键词
HLA; immunogenetics; immunodeficiency; IgA deficiency
类别
资金
- Swedish Research Council
- US National Institute of Allergy and Infectious Diseases [U19AI067152]
- Iranian government
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [U19AI067152, R01AI068759] Funding Source: NIH RePORTER
Selective IgA deficiency (IgAD; serum IgA concentration of < 0.07 g/l) is the most common primary immunodeficiency in Caucasians with an estimated prevalence of 1/600. The frequency of the extended major histocompatibility complex haplotype HLA A1, B8, DR3, DQ2 (the 8.1 haplotype) is increased among patients with IgAD. We carried out a direct measurement of the relative risk of homozygosity of the 8.1 haplotype for IgA deficiency in a population-based sample of 117 B8, DR3 homozygous individuals. IgA deficiency was found to be present in 2 of 117 (1.7%) of these subjects, a figure that is concordant with estimates of relative risk from large case-control studies in the Swedish population. These data are consistent with a multiplicative model for the 8.1 haplotype contribution to IgA deficiency and contrasts with prior studies, suggesting a much higher risk for 8.1 homozygosity. Using a dense single nucleotide polymorphism marker analysis of the MHC region in HLA B8, DR3, DQ2 homozygous individuals, we did not observe consistent differences between cases (n = 26) and controls (n = 24). Overall, our results do not support the hypothesis that IgA deficiency is associated with a distinct subgroup of 8.1 related haplotypes, but rather indicate that risk is conferred by the common 8.1 haplotype acting in multiplicative manner.
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