Ghanavati Fatemeh, Nezhad Seyed Reza Kazemi, Hajjari Mohammad Reza, Akhoond Mohammad Reza
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Department of Statistics, Faculty of Mathematics and Computer Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Arch Rheumatol. 2019 Apr 6;34(4):434-442. doi: 10.5606/ArchRheumatol.2020.7376. eCollection 2019 Dec.
This study aims to investigate the association of polymorphism rs10181656 (C>G) of signal transducer and activator of transcription 4 (STAT4) gene with rheumatoid arthritis (RA) and systemic sclerosis (SSc) in the southwest of Iran as well as the probable relationship between the polymorphism with clinical features and disease activity parameters in both diseases.
A total of 200 patients (120 with RA [21 males, 99 females; mean age 44.83 years; range, 16 to 75 years] and 80 with SSc [13 males, 67 females; mean age 44.3 years; range, 30 to 75 years]) and 120 healthy controls (25 males, 95 females; mean age 46.93 years; range, 30 to 75 years) were recruited in this study. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. A set of genotypes was confirmed by sequencing.
A statistically significant association was detected between STAT4 rs10181656 polymorphism and RA (p=0.007). No significant correlation was detected between STAT4 rs10181656 polymorphism and SSc (p=0.357). None of the clinical features (anti-cyclic citrullinated peptide, rheumatoid factor) or disease activity parameters (limited cutaneous SSc, diffuse cutaneous SSc) showed any correlation with the genotype distribution of the STAT4 rs10181656 polymorphism in RA or SSc patients.
Our findings suggest an association between RA susceptibility and STAT4 rs10181656 polymorphism. However, no significant association was found between the mentioned polymorphism and SSc. Clinical features and disease activity parameters did not show any association with the polymorphism.
本研究旨在调查伊朗西南部信号转导和转录激活因子4（STAT4）基因多态性rs10181656（C>G）与类风湿关节炎（RA）和系统性硬化症（SSc）的关联，以及该多态性与这两种疾病临床特征和疾病活动参数之间的可能关系。
本研究共纳入200例患者（120例RA患者[21例男性，99例女性；平均年龄44.83岁；范围16至75岁]和80例SSc患者[13例男性，67例女性；平均年龄44.3岁；范围30至75岁]）和120例健康对照者（25例男性，95例女性；平均年龄46.93岁；范围30至75岁）。采用聚合酶链反应-限制性片段长度多态性方法进行基因分型。一组基因型通过测序进行确认。
检测到STAT4 rs10181656多态性与RA之间存在统计学显著关联（p = 0.007）。未检测到STAT4 rs10181656多态性与SSc之间存在显著相关性（p = 0.357）。在RA或SSc患者中，临床特征（抗环瓜氨酸肽、类风湿因子）或疾病活动参数（局限性皮肤型SSc、弥漫性皮肤型SSc）与STAT4 rs10181656多态性的基因型分布均未显示出任何相关性。
我们的研究结果表明RA易感性与STAT4 rs10181656多态性之间存在关联。然而，未发现上述多态性与SSc之间存在显著关联。临床特征和疾病活动参数与该多态性未显示出任何关联。
