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Table 3 Analysis of PLCL2 rs1372072, NF-κB rs7665090, and IRF8 rs11117432 gene variants in the combined Caucasian populations (French and Italian)

From: Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis

SNP, phenotype (n) MAF Genotype distribution P value P adj a OR (95% CI)
PLCL2 rs1372072 T TT (%) TC (%) CC (%)    
SSc (1,597) 0.38 14.65 47.27 38.07 4.01 × 10−6 7.22 × 10−5 1.22 (1.12-1.33)
dcSSc (439) 0.38 14.35 46.69 38.95 0.01 0.12 1.19 (1.03-1.37)
SSc, Topo I+ (422) 0.38 13.74 47.86 38.38 0.01 0.09 1.20 (1.03-1.39)
lcSSc (1,028) 0.38 14.68 47.17 38.13 6.37 × 10−5 4.45 × 10−4 1.23 (1.11-1.36)
SSc, ACA+ (609) 0.39 15.92 46.96 37.11 6.21 × 10−5 4.35 × 10−4 1.29 (1.13-1.46)
Pulmonary fibrosis (565) 0.40 15.57 49.38 35.04 1.29 × 10−5 9.07 × 10−5 1.33 (1.17-1.51)
Controls (3,570) 0.33 11.76 43.80 44.42 NA NA NA
NF-κB rs7665090 G GG (%) AG (%) AA (%)    
SSc (1,590) 0.52 27.98 48.55 23.45 7.19 × 10−4 0.01 1.15 (1.06-1.25)
dcSSc (438) 0.55 32.64 44.52 22.83 4.93 × 10−4 0.003 1.28 (1.11-1.47)
SSc, Topo I+ (423) 0.53 28.13 49.40 22.45 0.01 0.12 1.18 (1.03-1.37)
lcSSc (1,025) 0.51 26.24 50.04 23.70 0.03 0.24 1.11 (1.00-1.22)
SSc, ACA+ (611) 0.51 25.53 50.08 24.38 0.20 NS 1.08 (0.95-1.22)
Pulmonary fibrosis (562) 0.54 30.78 46.61 22.59 7.14 × 10−4 0.004 1.24 (1.09-1.41)
Controls (3,585) 0.48 23.09 51.15 25.74 NA NA NA
IRF8 rs11117432 A AA (%) AG (%) GG (%)    
SSc (1,500) 0.14 2.03 25.76 72.22 1.56 × 10−5 2.49 × 10−4 0.75 (0.67-0.86)
dcSSc (444) 0.15 2.47 25 72.52 0.009 0.06 0.76 (0.62-0.93)
SSc, Topo I+ (423) 0.15 2.83 24.34 72.81 0.01 0.11 0.77 (0.63-0.95)
lcSSc (1,011) 0.14 1.58 26.40 72.00 1.96 × 10−4 0.001 0.75 (0.65-0.87)
SSc, ACA+ (598) 0.15 2.34 25.41 72.24 0.005 0.04 0.78 (0.65-0.93)
Pulmonary fibrosis (561) 0.15 2.13 25.66 72.19 0.004 0.02 0.76 (0.63-0.91)
Controls (2,290) 0.18 3.44 29.69 66.85 NA NA NA
  1. aAfter Bonferroni correction. ACA+, anti-centromere antibody; CI, confidence interval; dcSSc, diffuse cutaneous systemic sclerosis; lcSSc, limited cutaneous systemic sclerosis; MAF, minor allele frequency; n, number of pooled patients analysed; NA, not applicable; NS, not significant; OR, odds ratio; SNP, single-nucleotide polymorphism; SSc, systemic sclerosis; Topo I+, anti-topoisomerase I antibody.