Table 2 SLE- and/or pSS-associated eQTLs in B cells
From: Sex influences eQTL effects of SLE and Sjögren’s syndrome-associated genetic polymorphisms
Chr | SNP | Reported gene(s) associated with SLE/pSS | eQTL genea | Expression vs risk allele | P | FDR | Reference |
|---|---|---|---|---|---|---|---|
8 | rs13277113 | BLK/FAM167A | FAM167A | Increased | 2.13 × 10−71 | 4.12 × 10−69 | Hom et al. [12], Lessard et al. [17], Fairfax et al. [24], GTEx v6 [36] (immune) |
8 | rs922483 | BLK/FAM167A | FAM167A | Increased | 5.17 × 10−71 | 5.00 × 10−69 | Hom et al. [12], Lessard et al. [17], Fairfax et al. [24], GTEx v6 [36] (immune) |
7 | rs4728142 | IRF5/TNPO3 | IRF5 | Decreased | 2.69 × 10−20 | 1.04 × 10−18 | |
1 | rs12753665 | NCF2 | SMG7 | Decreased | 2.69 × 10−19 | 8.69 × 10−18 | |
8 | rs13277113 | BLK/FAM167A | BLK | Decreased | 7.19 × 10−15 | 1.99 × 10−13 | Hom et al. [12], Lessard et al. [17], Fairfax et al. [24], GTEx v6 [36] (immune) |
8 | rs922483 | BLK/FAM167A | BLK | Decreased | 1.04 × 10−12 | 2.51 × 10−11 | Hom et al. [12], Lessard et al. [17], Fairfax et al. [24], GTEx v6 [36] (immune) |
11 | rs4963128 | IRF7/PHRF1/KIAA1542 | IRF7 | Increased | 1.97 × 10−7 | 4.24 × 10−6 | Westra et al. [37] |
2 | rs7574865 | STAT4 | INPP1 | Increased | 6.05 × 10−5 | 1.17 × 10−3 | Not reportedb |
6 | rs11755393 | UHRF1BP1 | SNRPC | Decreased | 8.33 × 10−5 | 1.54 × 10−3 | GTEx v6 [36] (not immune) |
7 | rs4728142 | IRF5/TNPO3 | TNPO3 | Decreased | 2.18 × 10−4 | 3.83 × 10−3 | Westra et al. [37] |
11 | rs4963128 | IRF7/PHRF1/KIAA1542 | TMEM80 (probe picks up 4 transcripts) | Decreased | 2.37 × 10−4 | 3.99 × 10−3 | Lappalainen et al. [21], Westra et al. [37], GTEx v6 [36] (immune) |
2 | rs7574865 | STAT4 | MYO1B | Decreased | 8.83 × 10−4 | 0.014 | Not reportedb |
11 | rs4963128 | IRF7/PHRF1/KIAA1542 | TMEM80 (probe picks up 2 transcripts) | Decreased | 1.45 × 10−3 | 0.023 | Lappalainen et al. [21], Westra et al. [37], GTEx v6 [36] (immune) |
7 | rs10488631 | IRF5/TNPO3 | IRF5 | Decreased | 2.00 × 10−3 | 0.028 | Lappalainen et al. [21] |
11 | rs4938573 | CXCR5 | CD3D | Increased | 2.12 × 10−3 | 0.028 | Not reportedb |
8 | rs922483 | BLK/FAM167A | FDFT1 (probe picks up 14 transcripts) | Increased | 2.12 × 10−3 | 0.028 | Zeller et al. [61] |
6 | rs11755393 | UHRF1BP1 | UHRF1BP1 | Increased | 2.26 × 10−3 | 0.028 | GTEx v6 [36] (immune) |
11 | rs4963128 | IRF7/PHRF1/KIAA1542 | PHRF1 | Decreased | 3.00 × 10−3 | 0.036 | GTEx v6 [36] (not immune) |
8 | rs13277113 | BLK/FAM167A | FDFT1 (probe picks up 11 transcripts) | Increased | 3.31 × 10−3 | 0.038 | Zeller et al. [61] |
11 | rs4963128 | UHRF1BP1 | LRRC56 | Increased | 3.60 × 10−3 | 0.040 | Westra et al. [37] |
3 | rs6445975 | PXK | DNASE1L3 | Decreased | 4.53 × 10−3 | 0.049 | Fairfax et al. [24] |