Elsevier

Translational Research

Volume 160, Issue 6, December 2012, Pages 428-434
Translational Research

Original Article
Association between Rho-kinase (ROCK2) gene polymorphisms and Behçet’s disease

https://doi.org/10.1016/j.trsl.2012.08.002Get rights and content

Behçet's disease (BD) is a multi-systemic vasculitis. The aim of this study was to investigate the association between Rho-kinase (ROCK2) gene polymorphisms and patients with BD in a Turkish population. A total of 194 BD patients and 276 healthy controls with similar age and sex were included to this study. Polymorphisms were analyzed in genomic DNA using a BioMark 96.96 dynamic array system. mRNA from blood samples was extracted, and real-time polymerase chain reaction was performed for ROCK2 gene expression. There were marked changes in both genotype (TT, 41.8%; TA, 30.3%) and allele (T, 57%; A, 43%) frequencies for the rs35768389 (Asp601Val) polymorphism in patients compared with controls (TT, 64.6%; TA, 9.4%, P < 0.0001; T, 69.3%; A, 30.7%, P = 0.0004). Although CC genotype (52.0%) of rs1515219 polymorphism were more frequent, CT genotype (27.7%) were less frequent among the patients than controls (CC, 31.7%, CT, 44.6%, P = 0.0001). There was an increase in C allele (65.8% vs 54.0%) and decrease in T allele frequencies (34.2% vs 46.0%, P = 0.001) in patients. However, no associations were found with rs726843, rs2290156, rs965665, rs10178332, rs2230774, rs6755196, rs10929732, and rs34945852 polymorphisms. There was an increase in peripheral blood mRNA ROCK2 expressions in patients. This is the first study to examine the involvement of ROCK2 gene variation in the risk of incident BD. The results strongly suggest that ROCK2 gene polymorphisms may modify individual susceptibility to BD in the Turkish population.

Section snippets

Study populations

A total of 194 cases and 276 healthy controls were included to this study. All patients with BD fulfilled 3 or more of the International Study Group criteria for BD,3 and they all were in the follow-up of the rheumatology clinic. All sex- and age-matched controls were healthy and had no symptoms of BD. The study was approved by the local Ethics Committee, and written informed consent was obtained from patients and healthy volunteers according to the Declaration of Helsinki.

Blood samples and DNA isolation

Peripheral venous

Results

Clinical characteristics of the study population are presented in Table I. In this study, 194 patients with BD admitted to the Rheumatology Clinic were investigated. The mean age of the patients was 35.3 ± 10.0 years, and 53.1% of the patients were men. Concerning the clinical parameters, recurrent oral aphthous ulcers were documented in all patients. While occurrence of genital ulcers was high (73.2%), neurologic involvement was low (6.7%) among the patients in this study (Table I).

Discussion

In this case-control study, we have shown that rs35768389 (Asp601Val) and rs1515219 polymorphisms of the ROCK2 gene were significantly associated with BD and could be the risk factor of developing BD. Additionally, high AC and TT haplotype frequencies and increase in ROCK2 gene expression were observed in cases with BD. To the best of our knowledge, this is the first study to examine the association of the ROCK2 gene polymorphism with the risk of developing BD. Our results suggest TA genotype

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    This work was supported by a project (BAP TF.10.19) from the University of Gaziantep.

    The authors report no conflicts of interest. All authors have read the journal’s policy on disclosure of potential conflicts of interest.

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