SNP, phenotype (n) | MAF | Genotype distribution | P value | P adj a | OR (95% CI) | ||
---|---|---|---|---|---|---|---|
French Caucasian | |||||||
PLCL2 rs1372072 | T | TT (%) | TC (%) | CC (%) | |||
SSc (1,021) | 0.39 | 15.40 | 47.41 | 37.17 | 1.97 × 10−4 | 3.15 × 10−3 | 1.22 (1.10-1.36) |
dcSSc (298) | 0.39 | 15.64 | 46.93 | 37.41 | 0.02 | 0.39 | 1.22 (1.03-1.46) |
SSc. Topo I+ (233) | 0.39 | 15.51 | 48.27 | 36.20 | 0.02 | 0.39 | 1.25 (1.03-1.52) |
lcSSc (591) | 0.38 | 15.29 | 47.07 | 37.62 | 4.45 × 10−3 | 0.07 | 1.21 (1.06-1.38) |
SSc. ACA+ (349) | 0.39 | 16.90 | 45.77 | 37.31 | 5.37 × 10−3 | 0.08 | 1.26 (1.07-1.49) |
Pulmonary fibrosis (364) | 0.40 | 16.62 | 48.47 | 34.90 | 6.97 × 10−4 | 0.01 | 1.32 (1.12-1.55) |
Controls (2,384) | 0.34 | 12.31 | 44.01 | 43.67 | NA | NA | NA |
NF-κB rs7665090 | G | GG (%) | AG (%) | AA (%) | |||
SSc (1,021) | 0.52 | 27.21 | 49.59 | 23.18 | 0.02 | 0.39 | 1.12 (1.01-1.25) |
dcSSc (298) | 0.54 | 32.29 | 44.79 | 22.91 | 0.01 | 0.16 | 1.25 (1.05-1.49) |
SSc. Topo I+ (233) | 0.54 | 31.14 | 47.36 | 21.49 | 0.01 | 0.29 | 1.26 (1.04-1.53) |
lcSSc (591) | 0.50 | 24.95 | 51.81 | 23.22 | 0.26 | NS | 1.07 (0.94-1.22) |
SSc. ACA+ (349) | 0.50 | 23.97 | 52.04 | 23.97 | 0.65 | NS | 1.04 (0.88-1.22) |
Pulmonary fibrosis (364) | 0.52 | 28.53 | 48.87 | 22.59 | 0.05 | 0.84 | 1.17 (1.00-1.37) |
Controls (2,384) | 0.49 | 23.35 | 51.31 | 25.33 | NA | NA | NA |
IRF8 rs11117432 | A | AA (%) | AG (%) | GG (%) | |||
SSc (1,021) | 0.16 | 2.53 | 27.28 | 70.18 | 6.52 × 10−3 | 0.10 | 0.79 (0.68-0.93) |
dcSSc (298) | 0.15 | 2.38 | 25.25 | 72.35 | 0.01 | 0.22 | 0.73 (0.56-0.94) |
SSc. Topo I+ (233) | 0.16 | 3.52 | 26.87 | 69.60 | 0.23 | NS | 0.84 (0.64-1.10) |
lcSSc (591) | 0.16 | 2.28 | 29.22 | 68.48 | 0.08 | NS | 0.84 (0.69-1.01) |
SSc. ACA+ (349) | 0.15 | 3.28 | 25.37 | 71.34 | 0.04 | 0.74 | 0.78 (0.62-0.99) |
Pulmonary fibrosis (364) | 0.16 | 2.26 | 27.76 | 69.97 | 0.05 | 0.82 | 0.79 (0.63-1.00) |
Controls (2,384) | 0.19 | 3.77 | 31.33 | 64.88 | NA | NA | NA |
Italian Caucasian | |||||||
PLCL2 rs1372072 | T | TT (%) | TC (%) | CC (%) | |||
SSc (607) | 0.36 | 13.36 | 47.03 | 39.59 | 7.76 × 10−3 | 0.12 | 1.22 (1.05-1.41) |
dcSSc (152) | 0.34 | 11.72 | 46.20 | 42.06 | 0.42 | NS | 1.11 (0.86-1.44) |
SSc. Topo I+ (233) | 0.35 | 11.57 | 47.36 | 41.05 | 0.29 | NS | 1.13 (0.90-1.42) |
lcSSc (455) | 0.37 | 13.90 | 47.30 | 38.78 | 5.55 × 10−3 | 0.08 | 1.25 (1.06-1.47) |
SSc. ACA+ (349) | 0.38 | 14.66 | 48.49 | 36.84 | 4.49 × 10−3 | 0.07 | 1.32 (1.09-1.61) |
Pulmonary fibrosis (210) | 0.39 | 13.72 | 50.98 | 35.29 | 7.62 × 10−3 | 0.12 | 1.34 (1.08-1.67) |
Controls (1,237) | 0.32 | 10.68 | 43.41 | 45.89 | NA | NA | NA |
NF-κB rs7665090 | G | GG (%) | AG (%) | AA (%) | |||
SSc (607) | 0.52 | 29.66 | 47.45 | 24.23 | 9.00 × 10−3 | 0.14 | 1.20 (1.08-1.33) |
dcSSc (152) | 0.55 | 33.33 | 44.02 | 22.66 | 0.01 | 0.31 | 1.34 (1.03-1.76) |
SSc. Topo I+ (233) | 0.50 | 24.61 | 51.79 | 23.58 | 0.38 | NS | 1.10 (0.81-1.37) |
lcSSc (455) | 0.51 | 27.90 | 47.76 | 24.33 | 0.05 | 0.89 | 1.16 (0.96-1.34) |
SSc. ACA+ (349) | 0.51 | 27.50 | 47.58 | 24.90 | 0.18 | NS | 1.14 (0.95-1.34) |
Pulmonary fibrosis (210) | 0.56 | 34.61 | 42.78 | 22.59 | 2.29 × 10−3 | 0.04 | 1.37 (1.17-1.68) |
Controls (1,237) | 0.48 | 22.60 | 50.85 | 26.53 | NA | NA | NA |
IRF8 rs11117432 | A | AA (%) | AG (%) | GG (%) | |||
SSc (607) | 0.12 | 1.17 | 23.23 | 75.58 | 5.47 × 10−4 | 8.76 × 10−3 | 0.70 (0.57-0.85) |
dcSSc (152) | 0.14 | 2.64 | 24.50 | 72.84 | 0.33 | NS | 0.83 (0.60-1.17) |
SSc. Topo I+ (233) | 0.12 | 2.04 | 21.42 | 76.53 | 0.02 | 0.44 | 0.70 (0.51-0.96) |
lcSSc (455) | 0.12 | 0.67 | 22.79 | 76.52 | 2.51 × 10−4 | 4 × 10−3 | 0.65 (0.52-0.82) |
SSc. ACA+ (349) | 0.13 | 1.14 | 25.47 | 73.38 | 0.06 | 0.97 | 0.77 (0.59-1.01) |
Pulmonary fibrosis (210) | 0.12 | 1.92 | 22.11 | 75.96 | 0.03 | 0.51 | 0.71 (0.52-0.96) |
Controls (1,237) | 0.17 | 3.15 | 28.21 | 68.63 | NA | NA | NA |