Table 4

Methylation quantitative trait loci (metQTL) of genetic variants associated with primary Sjögren's syndrome (pSS) at genome-wide significance and the DNA methylation association of the most significant metQTL CpG site

Gene locuspSS associated SNP*Top CpG sitemetQTL
p Value
pSS EWAS
p Value
DDX6-CXCR5rs4936443cg091443982.5×10−39.9×10−4
FAM167A-BLKrs2736345cg217750072.1×10−90.02
IL12Ars485497cg258299450.020.03
IL12Ars583911cg079065510.014.5×10−8
IRF5-TNPO3rs4728142cg048641794.8×10−94.8×10−13
IRF5-TNPO3rs17339836cg048641794.6×10−44.8×10−13
IRF5-TNPO3rs10954213cg048641796.9×10−64.8×10−13
STAT4rs13426947cg153257320.010.03
TNIP1rs6579837cg190845080.032.5×10−3
TNIP1rs7732451cg159894360.041.5×10−13
HLA-DRArs3135394cg256454918.2×10−132.0×10−3
HLA-DQB1rs115575857cg071808973.0×10−708.9×10−7
HLA-DQB1rs3129716cg071808973.0×10−708.9×10−7
HLA-DQA1rs9271588cg082694024.1×10−515.0×10−4
  • *Single nucleotide polymorphism (SNP) associated with pSS at genome-wide significance reported by Lessard et al.9

  • EWAS, epigenome-wide association study.