Table 3. Most associated HLA variants of different diseases and correlation with expression levels of HLA Class II genes.
Disease | SNP GWAS [ref.] | Gene | Transcripts | r Value | p Value | RiskAllele | Risk AlleleFrequency |
UC | rs9268853 [35] | DQA2 | ENST00000374940 | 0.728 | 4.33E-11 | T | 0.66 |
DQB1 | ENST00000399074 | −0.637 | 4.41E-08 | ||||
rs2395185 [36] | DQA2 | ENST00000374940 | 0.728 | 4.33E-11 | G | 0.61 | |
DQB1 | ENST00000399084 | −0.637 | 4.41E-08 | ||||
IBD | rs477515 [34] | DQB1 | ENST00000399082 | 0.591 | 6.50E-07 | G | 0.69 |
DQA1 | ENST00000374940 | −0.708 | 2.41E-10 | ||||
T1D | rs9272346 [33] | DQB1 | ENST00000399082 | 0.629 | 7.30E-08 | G | 0.61 |
DQB1 | ENST00000399074 | 0.809 | 6.00E-15 | ||||
DQB1 | ENST00000399084 | 0.85 | <E-15 | ||||
DQA1 | ENST00000395364 | 0.803 | 1.20E-14 | ||||
DQA1 | ENST00000343139 | 0.769 | 7.27E-13 | ||||
SLE | rs9271100 [37] | DRB1 | ENST00000360004 | 0.731 | 3.22E-11 | T | 0.14 |
DQB1 | ENST00000399084 | 0.621 | 1.17E-07 | ||||
MS | rs3135388 [29] | DQB1 | ENST00000399065 | −0.647 | 2.34E-08 | A | 0.22 |
DRB5 | ENST00000374975 | −0.728 | 4.40E-11 | ||||
DRB1 | ENST00000360004 | −0.702 | 3.98E-10 | ||||
IgA deficiency | rs9271366 [40] | DQB1 | ENST00000399065 | 0.647 | 2.34E-08 | A | 0.85 |
DRB5 | ENST00000374975 | 0.728 | 4.40E-11 | ||||
DRB1 | ENST00000360004 | 0.702 | 3.98E-10 | ||||
Asthma | rs9272346 [39] | DQB1 | ENST00000399082 | 0.629 | 7.30E-08 | G | 0.61 |
DQB1 | ENST00000399074 | 0.809 | 6.00E-15 | ||||
DQB1 | ENST00000399084 | 0.85 | <E-15 | ||||
DQA1 | ENST00000395364 | 0.803 | 1.20E-14 | ||||
DQA1 | ENST00000343139 | 0.769 | 7.27E-13 |
Diseases: Type 1 diabetes (T1D), inflammatory bowel disease (IBD), ulcerative colitis (UC), systemic lupus erythematosus (SLE), asthma, IgA deficiency and multiple sclerosis (MS). SNP GWAS indicate the most associated variant detected by GWAS, references in brackets. Transcripts are with Ensembl nomenclature. r values (correlation coefficient) and p-values from Spearman correlation test.