Mohamadhosseini Azadeh, Mansouri Reza, Javinani Ali, Ganjouei Amir Ashraf, Akhlaghi Massoumeh, Aslani Saeed, Hamzeh Elham, Jamshidi Ahmadreza, Ahmadzadeh Nooshin, Mahmoudi Mahdi
Department of Immunology, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Avicenna J Med Biotechnol. 2019 Apr-Jun;11(2):187-191.
Rheumatoid Arthritis (RA) is a debilitating disorder in which the immune system mainly targets the synovial tissue. Janus kinase family including tyrosine kinase 2 (TYK2) is one of the crucial mediators of the downstream signaling pathway of inflammatory cytokines that further contributes to RA pathogenesis. In this study, the association of gene rs34536443 polymorphism, which may affect the function of TYK protein and, hence, the inflammatory settings, with RA susceptibility was investigated. Moreover, its correlation with demographic and serological features of the patients was assessed.
In the present study, 700 RA patients and 700 sex, age and ethnicity-matched healthy individuals as the control group were included. MGB TaqMan real-time allelic discrimination method was used to determine the rs34536443 polymorphism. Rheumatoid factor, anti-cyclic citrullinated peptide antibody, erythrocyte sedimentation rate and C-reactive protein were also measured.
The frequency of rs34536443 minor allele (C allele) was not different between patients and control group [1.7 2.61 percent, OR (95% CI)=1.35 (0.78-2.33);p=0.27]. There was not a statistically significant association between rs34536443 genotypes and RA susceptibility. Genotypes of rs34536443 polymorphism were associated nor with demographic neither with serological features of RA patients.
In the present study, there was not any association between gene rs34536443 polymorphism with either disease susceptibility, demographic and serological features of Iranian RA patients. These findings are not compatible with previous works from other ethnicities, further supporting the role of genetics in disease susceptibility.
类风湿关节炎（RA）是一种使人衰弱的疾病，免疫系统主要攻击滑膜组织。包括酪氨酸激酶2（TYK2）在内的Janus激酶家族是炎性细胞因子下游信号通路的关键介质之一，进一步促成了RA的发病机制。在本研究中，调查了可能影响TYK蛋白功能从而影响炎症状态的基因rs34536443多态性与RA易感性的关联。此外，评估了其与患者人口统计学和血清学特征的相关性。
在本研究中，纳入了700例RA患者和700例性别、年龄和种族匹配的健康个体作为对照组。采用MGB TaqMan实时等位基因鉴别方法确定rs34536443多态性。还检测了类风湿因子、抗环瓜氨酸肽抗体、红细胞沉降率和C反应蛋白。
患者组和对照组之间rs34536443次要等位基因（C等位基因）的频率没有差异[1.7%对2.61%，OR（95%CI）=1.35（0.78 - 2.33）；p = 0.27]。rs34536443基因型与RA易感性之间没有统计学上的显著关联。rs34536443多态性的基因型与RA患者的人口统计学特征和血清学特征均无关联。
在本研究中，基因rs34536443多态性与伊朗RA患者的疾病易感性、人口统计学特征和血清学特征均无关联。这些发现与其他种族先前的研究结果不一致，进一步支持了遗传学在疾病易感性中的作用。
