High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency.
- Ferreira, Ricardo C
- Pan-Hammarström, Qiang
- Graham, Robert R
- Fontán, Gumersindo
- Lee, Annette T
- Ortmann, Ward
- Wang, Ning
- Urcelay, Elena
- Fernández-Arquero, Miguel
- Núñez, Concepción
- Jorgensen, Gudmundur
- Ludviksson, Björn R
- Koskinen, Sinikka
- Haimila, Katri
- Padyukov, Leonid
- Gregersen, Peter K
- Hammarström, Lennart
- Behrens, Timothy W
DOIAbstract
Selective IgA deficiency (IgAD; serum IgA<0.07 g/l) is the most common form of human primary immune deficiency, affecting approximately 1∶600 individuals in populations of Northern European ancestry. The polygenic nature of IgAD is underscored by the recent identification of several new risk genes in a genome-wide association study. Among the characterized susceptibility loci, the association with specific HLA haplotypes represents the major genetic risk factor for IgAD. Despite the robust association, the nature and location of the causal variants in the HLA region remains unknown. To better characterize the association signal in this region, we performed a high-density SNP mapping of the HLA locus and imputed the genotypes of common HLA-B...
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