Review Article

Contribution of Genetic Factors to Sjögren’s Syndrome and Sjögren’s Syndrome Related Lymphomagenesis

Table 2

Associations of non-HLA genetic locus with Sjögren’s syndrome.

Gene/chromosomePolymorphismPopulationSample size (patients/controls) valueRelative riskStudy/year

Interferon pathways
IRF5/Chr7rs2004640Caucasians364 (210/154)0.011.93Miceli-Richard et al. 2007 [51]
rs10488631
CGGGG promoter insertion/deletion
Norwegian/Swedish1079 (368/711)2.4 10−51.49Nordmark et al. 2009 [52]
CGGGG promoter insertion/deletionCaucasians 824 (385/439)6 10−62.00Miceli-Richard et al. 2009 [53]
IRF5/TNPO3/Chr7rs13246321Norwegian/Swedish1072 (540/532)5.5 10−61.70Nordmark et al. 2011 [54]
rs3757387Caucasians10916 (4712/6204)2.73 10−191.44Lessard et al. 2013 [45]
STAT4/Chr2rs7574865Caucasians1232 (120/1112)0.011.47Korman et al. 2008 [55]
rs7582694Norwegian/Swedish1079 (368/711)0.00141.41Nordmark et al. 2009 [52]
rs7574865Colombian/German800 (277/523)7.7 10−61.40Palomino-Morales et al. 2010 [56]
rs7582694Norwegian/Swedish1072 (540/532)7 10−41.40Nordmark et al. 2011 [54]
rs10168266Chinese5622 (1845/3777)1.77 10−171.44Li et al. 2013 [46]
rs10553577
rs13426947
Caucasians10916 (4712/6204)6.8 10−15
9.45 10−9
1.43
1.32
Lessard et al. 2013 [45]
IL12A/Chr3rs485497
rs583911
Caucasians10916 (4712/6204)1.17 10−10
9.88 10−9
1.30
1.27
Lessard et al. 2013 [45]
NCR3/NKp30/Chr6rs11575837French/Scandinavian 1902 (1010/892)0.0039 0.48 Rusakiewicz et al. 2013 [57]
rs27361910.00190.56
PTPN22/Chr1 rs2476601French3.55 (183/172)nsnsIttah et al. 2005 [58]
Colombian 378 (70/308)0.012.42Gomez et al. 2005 [59]

B-cell function
BLK-FAM167A/Chr8rs12549796Norwegian/Swedish1072 (540/532)4.7 10−41.37Nordmark et al. 2011 [54]
rs7812879Chinese1152 (555/597)0.045Sun et al. 2013 [60]
rs2736345
rs2729935
rs6998387
Caucasians10916 (4712/6204)4.97 10−10
6.85 10−10
7.96 10−8
1.30
1.30
1.26
Lessard et al. 2013 [45]
CXCR5/Chr11rs7119038
4936443
Caucasians10916 (4712/6204)1.0 10−8
6.82 10−8
0.74
0.75
Lessard et al. 2013 [45]
BAFF/Chr13−2841 T→C. −2704 T→C. −2701 T→A. −871 C→TCaucasians259 (123/136)<0.001Nossent et al. 2008 [61]
rs1224141
rs12583006
rs9514828
rs1041569
rs9514827
Greek330 (193/137)<0.05Nezos et al 2014 [62]
GTF2I/chr7rs117026326Chinese5622 (1845/3777)1.31 10−532.20Li et al. 2013 [46]
EBF1/Chr5rs3843489Norwegian/Swedish 1072 (540/532)9.9 10−51.68Nordmark et al. 2011 [54]
Ox40L-TNFSF4/Chr1rs1234315Norwegian/Swedish7.4 10−41.34Nordmark et al. 2011 [54]
rs2205960
rs1234313
Chinese 643 (250/393)<0.05Kong et al. 2013 [63]

NF-κB pathway
TNFAIP3/chr6rs2230926Caucasians(18/397)0.0383.38Musone et al. 2011 [64]
rs5029939Chinese5622 (1845/3777)7.75 10−51.67Li et al. 2013 [46]
rs6933404
rs35926684
Caucasians10916 (4712/6204)6.53 10−8
7.21 10−8
1.26
1.26
Lessard et al. 2013 [45]
rs2230926Caucasians1025 (574/451)0.013.36Nocturne et al. 2013 [65]
TNIP1/Chr5rs6579837
rs7732451
Caucasians10916 (4712/6204)3.30 10−8
5.32 10−7
1.43
1.34
Lessard et al. 2013 [45]
rs3792783
rs7708392
Scandinavian/British5565 (1105/4460)3.4 10−5
1.3 10−3
1.33
1.21
Nordmark et al. 2013 [66]
LTA/LTB/TNF gene clustersrs1800629Norwegian/Swedish 1060 (527/532)1.6 10−11 Bolstand et al. 2012 [67]
rs9092534.42 10−8
BAFF-R/Chr22Ηis159TyrGreek427 (247/180)0.012.75Papageorgiou et al. 2015 [68]