Table 2 Candidate gene polymorphisms associated with systemic sclerosis
Encoded protein (gene location) | Patient (n) | Control (n) | Association |
|---|---|---|---|
TNF promoter (6p21.3) | 214 | 354 | -1031 C allele and -863 A allele strongly associated with ACA-positive SSc [37] |
TNF-α (6p21.3) | 114 | 170 | -238 and +489 A alleles are weakly associated with SSc [38] |
TNF-RII (chromosome 9) | 114 | 170 | TNF-RII -196 polymorphism is not associated with SSc [38] |
MCP-1 promoter (17q11.2) | 18 | 139 | -2518 G/G phenotype is associated with SSc [39] |
IL-1A (2q14) | 60 | 70 | IL-1A gene polymorphism is associated with SSc [40] |
IL-1A (2q14) | 46 | 150 | IL-1A -889T allele is associated with SSc [41] |
eNOS (7q36) | 73 | 112 | eNOS is associated with SSc [9] |
eNOS (7q36) | 77 | 49 | eNOS G894T is not associated with SSc [10] |
eNOS (7q36) | 164 | 184 | eNOS G894T is not associated with SSc [11] |
SPARC (5q31.3-32) | 20 | 75 | SPARC polymorphisms are associated with SSc [12] |
SPARC (5q31.3-32) | 121 | 200 | SPARC polymorphisms are not associated with SSc [13] |