Investigating the association between rho/rho-kinase gene polymorphisms and systemic sclerosis disease

Systemic sclerosis (SSc) is inflammatory diseases characterized by vasculopathy and fibrosis. The role of Rho/Rho-kinase pathway in the role of vasculopathy, fibrosis, and inflammation has been demonstrated. This study aimed to investigate the Rho/Rho-kinase gene polymorphisms in SSc. A total of 284 SSc patients and 284 healthy controls with similar age and sex were included to this study. Following genomic DNA isolation, polymorphisms were analyzed by using the BioMark HD dynamic array system. For calculation of the significance of differences in genotype and allele frequencies, the chi-square test or Fisher?s exact test was used, and haplotypes analysis was made by using online program. ROCK1 gene 3 polymorphisms (rs112108028, rs111874856, and rs35996865) were found to be significantly associated with SSc. However, the ROCK2 gene rs10178332 and rs10929732 polymorphisms were significantly associated with SSc. While 3 RhoA gene polymorphisms (rs6784820, rs974495, rs2177268), and 2 RhoC gene polymorphisms (rs11102522, rs11538960) were significantly associated with SSc, there were no marked associations with RhoB, RhoD and RhoE gene polymorphisms. Additionally, there were significant associations between some clinical and laboratuary findings and polymorphisms showed marked associations. This is the first study to investigate the association between Rho/Rho-kinase gene polymorphisms and SSc, and significant relationships of ROCK1, ROCK2, RhoA and RhoC gene polymorphisms with SSc have been revealed.