Systemic sclerosis ( SSc ) is the most severe connective tissue disorder. Recent studies have demonstrated that genetic factors may play a role in the development of systemic sclerosis.
The aim of the study was to investigate the association of signal transducer and activator of transcription 4 ( STAT4 ) rs7574865 and interferon regulatory factor 5 ( IRF5 ) rs2004640 polymorphisms with risk of systemic sclerosis.
Case-control studies were obtained from the electronic database of PubMed, Medline, Embase, and CNKI ( China National Knowledge Infrastructure ) up to December 2013.
Six related studies, including 4746 cases of systemic sclerosis and 7399 healthy controls, were pooled in this meta-analysis.
For STAT4 polymorphism, researchers observed a statistically significant positive association between risk factor T allele carriers and systemic sclerosis susceptibility ( odds ratio, OR = 1.37, 95% CI = 1.27-1.48, P less than 0.00001 ) in the overall population.
The presence of limited cutaneous ( lcSSc ) and diffuse cutaneous ( dcSSc ) scleroderma also showed a significant association with each of the genetic models ( P less than 0.00001 ).
For IRF5 polymorphism, the T allele was shown to be strongly associated with increased systemic sclerosis risk ( OR = 1.27, 95% CI = 1.17-1.39, P less than 0.00001 ).
No significant heterogeneity between studies was found.
In conclusion, the results demonstrated that STAT4 rs7574865 and IRF5 rs2004640G/T substitution are associated with a susceptibility to systemic sclerosis , and they may serve as the SSc genetic susceptibility factor.
These data confirmed that genetic polymorphisms may play a role in the development of systemic sclerosis and have provided new insight into the pathogenesis of systemic sclerosis. ( Xagena )
Xu Y at al, Int J Dermatol 2015; Epub ahead of print