Table 2 Summary of studies included in this review and the shared autoimmune disease risk loci that they identified
From: Emerging patterns of genetic overlap across autoimmune disorders
Autoimmune diseases compared | Study design | Shared risk loci (see Table 3 for other gene definitions) |
|---|---|---|
T1D and CeD [24] | 8,064 T1D; 3,064 parent-child trios 2,560 CeD 9,339 controls | RGS1, IL18RAP, TAGAP, CCR3, PTPN2, CTLA4, SH2B3 |
RA and SLE [30] | 3,962 RA and 9,275 controls Screening of 11 SLE-associated SNPs Case control study and meta-analysis | BLK (B lymphoid tyrosine kinase), UBE2L3 (Ubiquitin-conjugating enzyme E2L 3) |
RA and SLE [31] | 1,635 RA and 1,906 controls Screening of nine SLE-associated SNPs Case control study and meta-analysis | No shared SNPs except the BLK locus in the subgroup of patients with sicca syndrome |
RA and CeD [32] | 1,368 RA, 795 CeD and 1,683 controls Screening of 11 RA and 11 CeD loci Case control study and meta-analysis | SH2B3, TNFAIP3, IL2/IL21, SH2B3, LPP, MMEL1/TNFSF14, PFKB3/PRKCQ |
RA, T1D and CeD [25] | 3,962 RA and 3,531 controls Screening of 8 CeD- and 6 T1D-associated SNPs Case control study | TAGAP (CeD- and RA- associated SNP) CeD: minor allele at-risk RA: minor allele protective |
JIA and AID loci [33] | Exploratory cohort: 809 JIA and 3,535 controls Replication cohort: 1,015 JIA and 1,569 controls Screening of 519 AID-associated SNPs Case-control study and meta-analysis | PTPN22, PTPN2, IL2-IL21, STAT4 (Signal transducer and activator of transcription 4), TNFAIP3, COG6 (Component of oligomeric Golgi complex 6), ANGTP1 |
AS and Crohn's [27] | Screening of 39 Crohn's disease-associated SNPs 182 AS patients | ORMDL3 |
AS and Crohn's [28] | Screening of 53 Crohn's disease-associated SNPs 2,773 AS patients and 2,215 controls | Chr 1q32 (near KIF21B), STAT3, IL23R |
Crohn's and CeD [29] | Meta-analysis of GWAS data from Crohn's disease and CeD | PTPN2, IL18RAP, TAGAP, PUS10 (Pseudouridylate synthase 10) |
IBD and T1D [26] | Screening of 81 non-MHC loci associated with various AIDs from previous GWAS 1,689 Crohn's disease, 777 UC, 989 T1D and 6,197 controls | UC-associated loci: ICOSLG (Inducible T-cell co-stimulator ligand), TNFSF15, TNFAIP3 T1D-associated loci: HERC2 (Hect domain and RLD 2), IL26 CD-associated loci: IL10, CCNY (Cyclin Y), PTPN22, IL27, IL18RAP |
MS and AID loci [36] | 2,864 MS and 2,930 controls Screening of 20 SNPs associated with various AIDs from previous GWAS Case control study and meta-analysis | SH2B3 (SH2B adaptor protein 3) associated with RA, SLE and T1D; KIF5A (Kinesin family member 5A) and CD226 associated with RA and T1D |
SLE and AID loci [34] | 1,500 SLE and 5,706 controls Screening of 446 variants associated with 17 AIDs from previous GWAS Replication study with 2,085 SLE and 2,854 controls Case control study and meta-analysis | JIA-associated locus: VTCN1 Crohn's disease-associated loci: PLCL1, VEGFA, ZGPAT MS-associated loci: IL12A, RPL19P8, CD40 CeD-associated loci: IL12A, TRAF1 UC-associated loci: VEGFA, ZGPAT RA-associated loci: TRAF1, CD40 T1D-associated locus: CCR7 |