Yolbaş, ServetÇetin, Gözde YıldırımAlibaz, Fatma ÖnerÇağatay, YoncaYılmaz, NeslihanÖztuzcu, SerdarDönmez, SalimÖzgen, MetinKoca, Süleyman SerdarPamuk, Ömer NuriSayarlıoğlu, MehmetKısacık, BünyaminDireskeneli, HanerDemiryürek, Abdullah TuncayOnat, Ahmet Mesut2022-12-202022-12-202015-11-17Pehlivan, Y. vd. (2016). "Investigation of the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis". Rheumatology International, 36(3), 421-427.0172-81721437-160Xhttps://doi.org/10.1007/s00296-015-3400-4https://link.springer.com/article/10.1007/s00296-015-3400-4http://hdl.handle.net/11452/29978Systemic sclerosis (SSc) is a disease characterized by inflammation, vascular abnormalities and fibrosis. The role of Rho/Rho-kinase pathway was demonstrated in the pathogenesis of fibrosis, inflammation and vascular abnormalities. This study was aimed to investigate the relation between SSc and Rho/Rho-kinase gene polymorphisms. The study included 339 patients with SSc and 302 healthy subjects who were apparently healthy and at similar age and gender. Genotype distributions and allele frequencies were detected by using Chi-square test or Fisher's exact Chi-square test between groups, and the haplotype analysis was applied using online program (SHEsis). Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022). In this study, association between SSc disease and Rho/Rho-kinase gene polymorphisms was investigated for the first time; significant associations between ROCK1, ROCK2, RhoA and RhoC gene polymorphisms and SSc disease were demonstrated. The results strongly suggest that this SNP may be an important risk factor for development of SSc. However, further validation of these findings in an independent cohort is necessary.eninfo:eu-repo/semantics/closedAccessRheumatologySystemic sclerosisPathogenesisRho/Rho-kinaseEarly diagnosisRho-kinaseUrotensin-IIPulmonary-hypertensionEndothelinReceptorSclerodermaFibrosisDifferentiationVasoconstrictorInhibitionAdultCase-control studiesChi-square distributionFemaleGene frequencyGenetic association studiesGenetic predisposition to diseaseHaplotypesHumansMaleMiddle agedPhenotypePolymorphism, single nucleotideRho GTP-binding proteinsRho-associated kinasesRhoA GTP-binding proteinRisk factorsScleroderma, systemicTurkeyArticle0003745660000142-s2.0-8495860366042142736326615410RheumatologyUrotensin II; Pen(5)-Trp(7)-Orn(8)-Urotensin II (4-11); Human UTS2R ProteinProteinRho factorRho kinaseRhoA guanine nucleotide binding proteinRhoc proteinRock 2 proteinRock1 proteinUnclassified drugRho guanine nucleotide binding proteinRho kinaseRhoA guanine nucleotide binding proteinRHOA protein, humanRHOC protein, humanROCK1 protein, humanROCK2 protein, humanAdultArticleControlled studyDisease associationDNA polymorphismFemaleGene frequencyGenetic associationGenotypeHaplotypeHumanMajor clinical studyMalePriority journalSystemic sclerosisCase control studyChi square distributionClinical trialGenetic association studyGenetic predispositionGeneticsMiddle agedMulticenter studyPhenotypeRisk factorScleroderma, systemicSingle nucleotide polymorphismTurkey