Ramezanzadeh Mahboubeh, Khodabandehloo Fatemeh, Alesaeidi Samira, Mousavi Seyyed Hossein, Sadeghi Shahryar, Ehtesham Naeim, Mosallaei Meysam, Hazrati Ebrahim
Department of Genetics and Molecular Medicine, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran.
Department of Genetics and Advanced Medical Technology, Faculty of Medicine, AJA University of Medical Sciences, Tehran, Iran.
Adv Biomed Res. 2024 Oct 28;13:100. doi: 10.4103/abr.abr_29_24. eCollection 2024.
Interleukin-18 (IL-18) is recognized for its pro-inflammatory properties and plays a central role in the progression of rheumatoid arthritis (RA). The specific single-nucleotide polymorphisms (SNPs), rs1946518 (-607C>A) and rs187238 (-137G), that are found in the IL-18 promoter region can potentially impact the expression of the IL-18 gene. This study aimed to investigate the correlation between these two polymorphisms and RA in the Iranian population.
In this study, we conducted a case-control analysis with a total of 275 subjects consisting of 135 patients with RA and 140 controls. The high-resolution melting (HRM) method, performed through real-time polymerase chain reaction, was utilized for genotyping these polymorphisms.
Regarding the rs1946518 polymorphism, the frequency of AA and CA genotypes and allele A was significantly greater in the control group compared to the RA group (AA vs CC; OR: 0.42; 95%CI [0.198-0.872], CA vs CC; OR: 0.57; 95%CI [0.324-1.001], A vs C; OR: 0.58; 95%CI [0.401-0.836] ( < 0.05). There was no statistically significant difference in the frequency of genotypes and allele frequencies between the control and patient groups in terms of the rs187238 polymorphism ( > 0.05). The level of both the C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) was notably elevated in the patient group with CC genotype in rs1946518 ( < 0.05).
In the rs1946518 polymorphism, the AA and AC genotypes and the A allele demonstrated protective effects in RA. Besides, the CC genotype was associated with some laboratory characteristics in the RA group.
白细胞介素-18（IL-18）因其促炎特性而被认可，在类风湿性关节炎（RA）的进展中起核心作用。在IL-18启动子区域发现的特定单核苷酸多态性（SNP），即rs1946518（-607C>A）和rs187238（-137G），可能会影响IL-18基因的表达。本研究旨在调查伊朗人群中这两种多态性与RA之间的相关性。
在本研究中，我们进行了病例对照分析，共有275名受试者，其中包括135例RA患者和140名对照。通过实时聚合酶链反应进行的高分辨率熔解（HRM）方法用于对这些多态性进行基因分型。
关于rs1946518多态性，与RA组相比，对照组中AA和CA基因型以及等位基因A的频率显著更高（AA与CC；OR：0.42；95%CI[0.198 - 0.872]，CA与CC；OR：0.57；95%CI[0.324 - 1.001]，A与C；OR：0.58；95%CI[0.401 - 0.836]（P<0.05）。就rs187238多态性而言，对照组和患者组之间的基因型频率和等位基因频率没有统计学显著差异（P>0.05）。rs1946518中CC基因型的患者组中C反应蛋白（CRP）和红细胞沉降率（ESR）水平均显著升高（P<0.05）。
在rs1946518多态性中，AA和AC基因型以及A等位基因在RA中表现出保护作用。此外，CC基因型与RA组中的一些实验室特征相关。
