Table 1.

HLA Haplotypes Associated with an Increased Risk for Celiac Disease

HaplotypeVariant 1Proportion of Probands with This Haplotype 2
DQ2-positiveHLA-DQA1*0501 or *0505 and
HLA-DQB1*0201 or *0202		>90%
Half DQ2-positiveHLA-DQA1*0501 or 0505 or
HLA-DQB1*0201 or 0202		<5%
DQ8-positiveHLA-DQA1*03 and
HLA-DQB1*0302		5%-10%
1.

Haplotype-defining variants of HLA-DQA1 and HLA-DQB1 must be present but are not sufficient to cause celiac disease. HLA-DQA1 and HLA-DQB1 encode the alpha and beta chains of the celiac-associated heterodimer proteins DQ2 and DQ8 (see Figure 1).

2.

DQ2-positive haplotype is also present in 20%-30% of the general population; the DQ8-positive haplotype is also present in 10% of the general population [Sollid & Lie 2005].

From: Celiac Disease

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