Table 2.
Association between the investigated genotypes in SSc-versus-control comparisons in the discovery cohort
| SNP | Gene | Minor allele* | MAF (case)** | OR (95 % CI) | p value |
|---|---|---|---|---|---|
| rs2736100 | TERT | T | 0.50 | 1.04 (0.95; 1.13)† | 0.393 |
| rs2076295 | DSP | G | 0.44 | 0.96 (0.88; 1.05)† | 0.387 |
| rs4727443 | AZGP1 | A | 0.41 | 1.03 (0.95; 1.13)† | 0.487 |
| rs7934606 | MUC2 | A | 0.41 | 1.08 (0.99; 1.18)† | 0.084 |
| rs2034650 | IVD | G | 0.49 | 1.03 (0.95; 1.13)† | 0.458 |
| rs1981997 | MAPT | A | 0.22 | 0.97 (0.88; 1.08)† | 0.636 |
| rs12610495 | DPP9 | G | 0.28 | 1.00 (0.91; 1.10)† | 0.967 |
| rs6793295 | LRRC34 | C | 0.29 | 1.14 (1.03; 1.25) † | 0.009 |
| rs2609255 | FAM13A | G | 0.22 | 1.01 (0.91; 1.12)† | 0.851 |
| rs11191865 | OBFC1 | G | 0.52 | 1.09 (1.00; 1.19) † | 0.043 |
| rs1278769 | ATP11A | A | 0.24 | 0.95 (0.86; 1.06)† | 0.365 |
| rs1379326 | CSMD1 | G | 0.26 | 0.86 (0.69; 1.08)‡ | 0.199 |
| rs17690703 | SPPL2C | T | 0.26 | 1.03 (0.95; 1.11) | 0.546 |
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
SSc systemic sclerosis, SNP single nucleotide polymorphism, MAF minor allele frequency
*The minor allele is defined as the minor allele in the combined case and control group; **MAF is defined as the minor allele frequency in cases and controls; †Odds ratio for the minor allele in the additive model; ‡Odds ratio based on the recessive model