Table 1.

Genetic loci associated with primary Sjögren syndrome

Variant	Position (Chr:bp)	Gene	Function	Odds ratio	P value	Ref.
rs7523907	1:167427247	CD247	T cell receptor signalling	0.85	9.33 × 10−9 a	30
rs10168266	2:191071078	STAT4	Intracellular signalling	1.44	2 × 10−17	27
rs2293765	2:191520845	NAB1	Transcriptional repression	1.24	5.53 × 10−14	30
rs485497	3:160001345	IL12A	The 35-kDa subunit of IL-12	1.3	1 × 10−10	31
rs6579837	5:151055333	TNIP1	Inhibits NF-κB activation	1.43	3 × 10−8	31
rs2431697	5:159879978	PTTG1	Anaphase-promoting complex substrate	0.83	3.33 × 10−9	30
		MIR146A	Post-transcriptional regulation of gene expression
rs6457374	6:31272261	HLA-B	Presents peptides derived from the endoplasmic reticulum lumen	3.27	3.52 × 10−27	33
rs2523607	6:31322790	HLA-B	Presents peptides derived from the endoplasmic reticulum lumen	5.27	5.30 × 10−58	32
MICA*008	6:31371356	MICA	Stress-induced ligand for the natural killer cell-activating protein NKG2D	2.24	2.61 × 10−35	33
rs1800629	6:31543031	TNF	Multifunctional pro-inflammatory cytokine	2	2.48 × 10−10	37
rs7197	6:32412580	HLA-DRA	Presents peptides derived from extracellular proteins	1.56	2.6 × 10−25	32
rs116232857	6:32597064	Intergenic (HLA-DQA1 and HLA-DRB1)	Presents peptides derived from extracellular proteins	2.42	1.14 × 10−67	31
			Presents peptides derived from extracellular proteins
rs115575857	6:32659645	HLA-DQA1	Presents peptides derived from extracellular proteins	3.65	3.7 × 10−90	31
		HLA-DQB1
		HLA-DRA
rs9277464	6:33053352	HLA-DPB1	Presents peptides derived from extracellular proteins	1.65	3 × 10−7	29
rs4282438	6:33072172	Intergenic (HLA-DPB2)	Presents peptides derived from extracellular proteins	1.58	8.77 × 10−25	27
rs5029939	6:137874586	TNFAIP3	Inhibits NF-κB activation	1.67	8 × 10−9	27
rs526531	6:138243700	PRDM1	Repressor of IFNβ expression	1.13	4.86 × 10−8 a	30
		ATG5	Involved in autophagic vesicle formation
rs4917129	7:50323074	IKZF1	Transcription factor that regulates lymphocyte differentiation	0.7	4.24 × 10−8	36
rs117026326	7:74711703	GTF2I	Phosphoprotein with roles in transcription and signal transduction	2.2	1 × 10−53	27
		NCF1	Subunit of neutrophil enzyme NADPH oxidase
rs3757387	7:128936032	IRF5	Transcription factor with diverse roles	1.44	3 × 10−19	31
rs17339836	7:129041008	TNPO3	Nuclear import receptor	1.58	2 × 10−16	31
rs4841466	8:10829159	XKR6	Unknown	1.17	3.77 × 10−8	30
rs2736345	8:11494976	BLK	Tyrosine kinase involved in B cell development	1.3	5 × 10−10	31
		FAM167A	Unknown
rs7119038	11:118867572	CXCR5	Receptor for the chemokine CXCL13	1.35	1 × 10−8	31
rs10774671	12:113356943	OAS1	Interferon-induced antiviral enzyme	0.75	2.59 × 10−9	35
rs8071514	17:10462513	RPTOR	Controls mTORC1 activity involved in cell growth and survival	0.84	1.64 × 10−8	30
		CHMP6	Probably involved in the biosynthesis of endosomes
		BAIAP2	Adapter protein that links membrane-bound small G proteins to cytoplasmic effector proteins.
rs7210219	17:78964083	MAPT	Promotes microtubule assembly and stability	0.78	2.4 × 10−10	30
		CRHR1	A receptor that binds to corticotropin-releasing hormones
rs11085725	19:39747780	TYK2	Involved in interferon and cytokine signalling	0.78	7.17 × 10−13	30
rs2069235	22:39747530	SYNGR1	Unknown	1.21	5.06 × 10−10	30

bp, base pair; Chr, chromosome; mTORC1, mechanistic target of rapamycin complex 1; NF-κB, nuclear factor-κB. ^aP value from a meta-analysis combining more than one study or cohort.