Table 1 List of pSS- and/or SLE-associated SNPs used in the eQTL analyses
From: Sex influences eQTL effects of SLE and Sjögren’s syndrome-associated genetic polymorphisms
Chr | SNP | Proxy SNP for top associated SNP (r 2) | Gene region | MAFbmales/females | Disease association | Disease risk allelea | OR | Assoc P | Reference |
|---|---|---|---|---|---|---|---|---|---|
1 | rs3024505 | IL-10 | 0.17/0.14 | SLE | A | 1.19 | 4.00 × 10−8 | Gateva et al. [14] | |
1 | rs10911363 | rs12753665 (0.821) | NCF2 | 0.26/0.29 | SLE | T(A) | 1.23 | 2.87 × 10−10 | Cunninghame Graham et al. [16] |
2 | rs1990760 | IFIH1 | 0.42/0.42 | SLE | T | 1.17 | 1.63 × 10−8 | Cunninghame Graham et al. [16] | |
2 | rs7574865 | STAT4 | 0.27/0.20 | SLE | T | 1.57 | 1.40 × 10−10 | Gateva et al. [14] | |
3 | rs485497 | IL12A | 0.49/0.51 | pSS | A | 1.3 | 1.17 × 10−10 | Lessard et al. [17] | |
3 | rs6445975 | PXK | 0.23/0.26 | SLE | C | 1.25 | 7.10 × 10−9 | Harley et al. [13] | |
4 | rs10516487 | rs4637409 (1) | BANK1 | 0.35/0.30 | SLE | G(A) | 1.38 | 3.74 × 10−10 | Kozyrev et al. [15] |
5 | rs7708392 | rs10036748 (1) | TNIP1 | 0.26/0.25 | SLE | C(T) | 1.27 | 3.80 × 10−13 | Gateva et al. [14] |
6 | rs6568431 | PRDM1/ATG5 | 0.38/0.40 | SLE | A | 1.2 | 7.10 × 10−10 | Gateva et al. [14] | |
6 | rs5029939 | TNFAIP3 | 0.04/0.05 | SLE | G | 2.29 | 2.86 × 10−12 | Graham et al. [58] | |
6 | rs11755393 | UHRF1BP1 | 0.32/0.34 | SLE | G | 1.17 | 2.20 × 10−8 | Gateva et al. [14] | |
7 | rs2070197 | rs10488631 (0.938) | IRF5/TNPO3 | 0.10/0.10 | SLE | C(C) | 1.88 | 5.80 × 10−24 | Gateva et al. [14] |
7 | rs4728142 | IRF5/TNPO3 | 0.45/0.46 | pSS | C(A) | 1.31 | 2.73 × 10−19 | Lessard et al. [17] | |
7 | rs849142 | JAZF1 | 0.49/0.50 | SLE | T | 1.19 | 1.50 × 10−9 | Gateva et al. [14] | |
8 | rs13277113 | BLK/C8orf13 | 0.25/0.25 | SLE | A | 1.39 | 1.00 × 10−10 | Hom et al. [12] | |
8 | rs2736345 | rs922483 (1) | BLK/C8orf13 | 0.29/0.29 | pSS | G(T) | 1.16 | 4.97 × 10−10 | Lessard et al. [17] |
8 | rs7829816 | LYN | 0.19/0.21 | SLE | T | 1.23 | 5.40 × 10−9 | Harley et al. [13] | |
11 | rs2732552 | CD44, PDHX | 0.40/0.49 | SLE | C | 1.17 | 1.82 × 10−9 | Lessard et al. [59] | |
11 | rs7119038 | rs4938573 (0.865) | CXCR5 | 0.22/0.22 | pSS | A(T) | 1.21 | 1.10 × 10−8 | Lessard et al. [17] |
11 | rs4963128 | IRF7/PHRF1/KIAA1542 | 0.36/0.29 | SLE | C | 1.22 | 3.00 × 10−10 | Harley et al. [13] | |
16 | rs11644034 | IRF8 | 0.22/0.23 | SLE | G | 1.22 | 2.72 × 10−9 | Lessard et al. [60] | |
16 | rs9888739 | ITGAM-ITGAX | 0.09/0.12 | SLE | T | 1.62 | 1.61 × 10−23 | Harley et al. [13] |