|
Candidate gene polymorphisms associated with systemic sclerosis |
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| 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] |
|
ACA, anticentromere antibody; eNOS, endothelial nitric oxide synthase; IL, interleukin; MCP, monocyte chemoattractant protein; SPARC, secreted protein, acidic and rich in cysteine; TNF, tumour necrosis factor; TNF-RII, TNF receptor II. | |||
Mayes and Trojanowska Arthritis Research & Therapy 2007 9(Suppl 2):S5 doi:10.1186/ar2189 |
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