细胞因子基因单核苷酸多态性及其与沙特原发性干燥综合征患者的相关性：一项横断面研究。
Single nucleotide polymorphisms in cytokine genes and their association with primary Sjögren's syndrome in Saudi patients: A cross-sectional study.
机构信息
From the Department of Zoology (Alqahtani, Daghestani); from the Department of Medicine (Omair), Rheumatology Division; from the Department of Medicine (Alhamad), Pulmonary Division; from the Department of Statistics and Operations Research (Tashkandy), College of Sciences; from the Central Laboratory (Othman); from the Department of Biochemistry (Warsy), King Saud University; from the Department of Clinical Sciences (Alenzi), College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia; and from Department of Clinical Sciences (Halwani), Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.
出版信息
Saudi Med J. 2023 Dec;44(12):1232-1239. doi: 10.15537/smj.2023.44.12.20230490.
OBJECTIVES
To determine the allelic frequencies and effects of genotypic variations in cytokine gene polymorphisms in a Saudi Arabian population.
METHODS
This cross-sectional study involved 41 patients with Primary Sjögren's syndrome (pSS) and 71 healthy controls between October 2018 and May 2019. Single nucleotide polymorphisms genotyping was performed using the SEQUENOM MassARRAY System, targeting nine polymorphisms in different cytokine genes. Chi-square tests were used to compare the patients and controls.
RESULTS
The interleukin-1 beta (IL-1β) rs1143627 CT (control, 52.7%; patients, 21.2%) and TT + CT (= 0.003; =0.033) genotypes were less frequent in patients with pSS than in healthy controls. The C allele in rs10488631 in the interferon regulatory factor 5 (IRF5) gene and the A allele in rs12583006 in the B-cell activating factor (BAFF) gene were associated with an increased risk of pSS development in the patient group.
CONCLUSION
The CT genotype at -31 (rs1143627) in the IL-1β gene was not associated with a high risk of pSS development in the Saudi population, in contrast to what has been verified in other ethnicities. However, the C allele in rs10488631 in IRF-5 and the A allele in rs12583006 in BAFF were associated.
目的
确定沙特阿拉伯人群细胞因子基因多态性的等位基因频率和基因型变异的影响。
方法
本横断面研究于 2018 年 10 月至 2019 年 5 月纳入 41 例原发性干燥综合征（pSS）患者和 71 名健康对照者。采用 SEQUENOM MassARRAY 系统对 9 个不同细胞因子基因中的单核苷酸多态性进行基因分型。采用卡方检验比较患者和对照组。
结果
白细胞介素 1β（IL-1β）rs1143627 CT（对照，52.7%；患者，21.2%）和 TT+CT（P=0.003；P=0.033）基因型在 pSS 患者中较健康对照组少见。干扰素调节因子 5（IRF5）基因 rs10488631 中的 C 等位基因和 B 细胞激活因子（BAFF）基因 rs12583006 中的 A 等位基因与患者组中 pSS 发病风险增加相关。
结论
与其他种族不同，在沙特人群中，IL-1β基因-31（rs1143627）处的 CT 基因型与 pSS 发病风险升高无关。然而，IRF-5 基因 rs10488631 处的 C 等位基因和 BAFF 基因 rs12583006 处的 A 等位基因与 pSS 发病相关。
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