Celiac disease: pathogenesis of a model immunogenetic disease
J. Clin. Invest. Martin F. Kagnoff, et al. 117:41 doi:10.1172/JCI30253 [
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Figure 4Two ways to inherit the HLA-DQ2 heterodimer associated with CD. DR17 haplotypes (formerly termed DR3) carry in
cis (that is, on the same chromosome) the
HLA-DQ alleles
HLA-DQB1*0201, which encodes a β chain, and
HLA-DQA1*05, which encodes an α chain. The β and α chains form an HLA-DQ2 heterodimer that is associated with CD. DR7 haplotypes carry the very closely related
HLA-DQB1*0202 allele on 1 chromosome. If the other chromosome carries a DR11, DR12, or DR13 (formerly termed DR5) haplotype that has the
HLA-DQA1*05 allele, the β and α chains encoded by those alleles can pair in the cell and form the CD-associated HLA-DQ2 heterodimer. If an individual is homozygous for DR17, or heterozygous for DR17/DR7, 100% or 50%, respectively, of their HLA-DQ molecules are presumed to be the CD-associated HLA-DQ2 heterodimer.