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Table 2 Analysis of PLCL2 rs1372072, NF-κB rs7665090, and IRF8 rs11117432 gene variants in French and Italian populations

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)
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
  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.