Table 3.
Association studies of investigated genotypes in comparison of ATA- or ACA-positive SSc patients to controls in the discovery cohort
| ATA (+) | ACA (+) | ||||
|---|---|---|---|---|---|
| SNP | Gene | OR (95 % CI) | p value | OR (95 % CI) | p value |
| rs2736100* | TERT | 1.01 (0.84; 1.22) | 0.881 | 1.14 (0.99; 1.31) | 0.069 |
| rs2076295* | DSP | 1.01 (0.83; 1.21) | 0.945 | 0.94 (0.82; 1.09) | 0.423 |
| rs4727443* | AZGP1 | 1.12 (0.93; 1.36) | 0.226 | 0.96 (0.83; 1.11) | 0.609 |
| rs7934606* | MUC2 | 1.00 (0.83; 1.20) | 0.992 | 1.07 (0.93; 1.23) | 0.925 |
| rs2034650* | IVD | 0.99 (0.82; 1.19) | 0.915 | 1.04 (0.90; 1.20) | 0.584 |
| rs1981997* | MAPT | 0.92 (0.73; 1.16) | 0.495 | 1.15 (0.97; 1.36) | 0.100 |
| rs12610495* | DPP9 | 0.98 (0.80; 1.20) | 0.847 | 1.05 (0.90; 1.22) | 0.572 |
| rs6793295* | LRRC34 | 1.15 (0.94; 1.42) | 0.172 | 1.15 (0.98; 1.35) | 0.080 |
| rs2609255* | FAMI3A | 1.04 (0.83; 1.30) | 0.736 | 1.00 (0.84; 1.19) | 1.000 |
| rs11191865 * | OBFC1 | 1.21 (1.00; 1.45) | 0.048 | 0.99 (0.86; 1.14) | 0.898 |
| rs1278769* | ATP11A | 1.09 (0.89; 1.35) | 0.394 | 0.96 (0.81; 1.14) | 0.650 |
| rs1379326† | CSMD1 | 0.78 (0.46; 1.31) | 0.340 | 0.94 (0.65; 1.36) | 0.736 |
| rs17690703 | SPPL2C | 0.97 (0.76; 1.26) | 0.870 | 1.14 (0.94; 1.38) | 0.184 |
Gene names: TERT: telomerase reverse transcriptase; DSP: desmoplakin; AZGP1: alpha-2-glycoprotein 1, zinc-binding; MUC2: mucin 2; IVD: isovaleryl-CoA dehydrogenase; MAPT: microtubule-associated protein tau; DPP9: dipeptidyl-peptidase 9; LRRC34: leucine-rich repeat-containing 34; FAMI3A: family with sequence similarity 13, member A; OBFC1: oligonucleotide/oligosaccharide-binding fold containing 1; ATP11A: ATPase, class VI, type 11A; CSMD1: CUB and Sushi multiple domains 1; SPPL2C: signal peptide peptidase-like 2C
ATA anti-topoisomerase 1 antibody, ACA anti-centromere antibody, SSc systemic sclerosis, SNP single nucleotide polymorphism
*Additive model;,†Recessive model