Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.

As shown in Figure 8E , an assessment of chromosome-specific transcription in MDM cultures from eleven heterozygotes for the rs9271593 (peak XL9 signal) revealed consistent and highly significant increases in transcription of HLA-DRB1, HLA-DQA1, and HLA-DQB1 for chromosomes carrying risk-associated variants.

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Removal of the XL9 and DQB1 promoter signals left only the DRB1 signal with marginally significant SLE association and removal of all three signals removed all significant association of HLA-D with disease ( Figure 5Bii & iii ).

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