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]


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