Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799983
rs1799983
0.050 GeneticVariation BEFREE The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. 12015245

2002

dbSNP: rs1177506410
rs1177506410
AGT
0.010 GeneticVariation BEFREE The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. 12015245

2002

dbSNP: rs1275805226
rs1275805226
AGT
0.010 GeneticVariation BEFREE The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. 12015245

2002

dbSNP: rs1800470
rs1800470
0.010 GeneticVariation BEFREE These results are different from a previous study in which the frequency of the T/T allele was high in SSc at T869C (Leu10Pro). 12207584

2002

dbSNP: rs755460305
rs755460305
0.010 GeneticVariation BEFREE The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. 12015245

2002

dbSNP: rs1799983
rs1799983
0.050 GeneticVariation BEFREE Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis. 15530459

2004

dbSNP: rs2476601
rs2476601
0.760 GeneticVariation BEFREE Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis. 16870103

2006

dbSNP: rs2476601
rs2476601
0.760 GeneticVariation BEFREE The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classification of SSc within the spectrum of autoimmune diseases and strongly suggests the involvement of common susceptibility genes and similarly disordered immunoregulatory pathways. 17133608

2006

dbSNP: rs1799983
rs1799983
0.050 GeneticVariation BEFREE Hemorheologic profile in systemic sclerosis: role of NOS3 -786T > C and 894G >T polymorphisms in modulating both the hemorheologic parameters and the susceptibility to the disease. 16802365

2006

dbSNP: rs2243204
rs2243204
0.010 GeneticVariation BEFREE We analyzed four IL13 gene polymorphisms, rs1800925 (IL13-1055), rs20541 (Arg130Gln), rs847, and rs2243204 in 107 unrelated SSc patients (40 patients having diffuse cutaneous form and 67 patients having limited cutaneous form) and in 170 controls.All subjects were Caucasians. 16832637

2006

dbSNP: rs231775
rs231775
0.010 GeneticVariation BEFREE In Iranian patients, susceptibility to SSc is not influenced by a bi-allelic ctla-4 gene (A49G) polymorphism. 16189655

2006

dbSNP: rs638376
rs638376
0.010 GeneticVariation BEFREE We detected an association between IL13RA2 rs638376 and patients with SSc [p = 0.004, odds ratio (OR) = 1.85, confidence interval (CI) 1.22-2.74, p corr = 0.02], as well as with dcSSc in that subgroup of patients (p = 0.01, OR 2.22, 95% CI 1.27-3.89, p corr = 0.05). 16981293

2006

dbSNP: rs1799983
rs1799983
0.050 GeneticVariation BEFREE We investigated haemorheological variables in patients with idiopathic sudden sensorineural hearing loss (ISSHL), retinal vein occlusion (RVO) and systemic sclerosis (SSc), as possible models of microvascular damage, and their relationship with eNOS gene T-786C, G894T and 4a/4b polymorphisms. 17634663

2007

dbSNP: rs2476601
rs2476601
0.760 GeneticVariation BEFREE We then conducted a meta-analysis of the most recent studies of SSc in order to verify the association or lack of association between the PTPN22 1858C>T variant and SSc.</span> 18576360

2008

dbSNP: rs1130866
rs1130866
0.010 GeneticVariation BEFREE Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease. 18263595

2008

dbSNP: rs1322403577
rs1322403577
0.010 GeneticVariation BEFREE Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease. 18263595

2008

dbSNP: rs1372834938
rs1372834938
0.010 GeneticVariation BEFREE While no association was found between SSc and -819C/T, -592C/A polymorphism, -1082 G/A allele frequency in SSc patients was higher than that in control and significant association was found between SSc and -1082 G/A (Pc: <0.000, OR: 2.85 95% CI: 1.74-4.63). 18493769

2008

dbSNP: rs17235409
rs17235409
0.010 GeneticVariation BEFREE We analyzed four natural resistance associated macrophage protein 1 (NRAMP1) gene polymorphisms including 5' promoter (GT)n microsatellite, INT4 (469 + 14G/C), 3'UTR (1729 + 55del4), and D543N (codon 543, Asp to Asn) in 52 systemic sclerosis patients with interstitial lung involvement and 136 healthy controls. 17876529

2008

dbSNP: rs17612648
rs17612648
0.010 GeneticVariation BEFREE The functional variant C77G (rs17612648) of PTPRC (CD45) was described to confer risk for systemic sclerosis (SSc) in German Caucasians. 18634151

2008

dbSNP: rs2834167
rs2834167
0.010 GeneticVariation BEFREE Genotype A/A at rs2834167 (47K/K) was significantly increased in diffuse cutaneous SSc (dcSSc) (41.3% in dcSSc, 20.9% in controls, P=0.0018, odds ratio=2.67). 18588853

2008

dbSNP: rs6314
rs6314
0.010 GeneticVariation BEFREE The His452Tyr substitution may influence susceptibility to systemic sclerosis by altering platelet aggregation in response to serotonin. 18761744

2008

dbSNP: rs999788
rs999788
0.010 GeneticVariation BEFREE A SNP in the 5' flanking region of IL10RB, rs999788, also showed association with dcSSc; however, this association was shown to be secondarily caused by linkage disequilibrium with rs2834167. 18588853

2008

dbSNP: rs7574865
rs7574865
0.870 GeneticVariation BEFREE The association of the rs7574865 T allele with lcSSc was confirmed in all the replication cohorts with different effect sizes (OR ranging between 1.15 and 1.86), as well as the lack of association of STAT4 with dcSSc. 19286670

2009

dbSNP: rs7574865
rs7574865
0.870 GeneticVariation BEFREE An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiple increased 1.28-fold risk of SSc. 19644887

2009

dbSNP: rs3117230
rs3117230
0.710 GeneticVariation BEFREE The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)). 19950302

2009