Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China (mainland).
Department of Orthopedics, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China (mainland).
Med Sci Monit. 2020 May 1;26:e919528. doi: 10.12659/MSM.919528.
BACKGROUND We aimed to assess the potential association of runt-related transcription factor 3 (RUNX3) gene variants with ankylosing spondylitis (AS) susceptibility among Chinese Han people. MATERIAL AND METHODS Genotyping for RUNX3 variants was accomplished through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 115 AS patients and 102 healthy controls. Genotypes distributions of the polymorphisms in controls was assessed for their deviation from Hardy-Weinberg equilibrium (HWE). Moreover, odds ratio (OR) with 95% confidence interval (95%CI) was achieved using chi-square analysis to evaluate AS risk related to RUNX3 polymorphisms. Additionally, logistic regression analysis produced adjusted OR values. RESULTS Genotypes distribution of rs760805 and rs11249206 polymorphisms conformed to HWE in the control group (P>0.05). TT genotype of rs760805 appeared more frequently among AS cases than in controls (P=0.033), indicating its significant association with increased risk of AS onset (OR=2.309, 95%CI=1.069-4.892). The carriage of T allele in rs760805 also heightened AS incidence, in comparison to A allele (OR=1.578, 95%CI=1.075-2.316, P=0.020). Moreover, the carriage of AT+TT genotype in rs760805 and TT genotype in rs11249206 obviously increased risk of AS onset (OR=2.585, 95%CI=1.062-6.288). CONCLUSIONS RUNX3 rs760805 polymorphism can contribute to AS incidence in Chinese Han people. The interaction of the 2 polymorphisms may be a risk factor for AS.
我们旨在评估 runt 相关转录因子 3(RUNX3)基因变异与中国人汉族人群中强直性脊柱炎(AS)易感性的潜在关联。
通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)在 115 例 AS 患者和 102 例健康对照中对 RUNX3 变体进行基因分型。评估控制组中多态性的基因型分布是否偏离 Hardy-Weinberg 平衡(HWE)。此外,使用卡方分析评估与 RUNX3 多态性相关的 AS 风险的优势比(OR)及其 95%置信区间(95%CI)。此外,逻辑回归分析产生了调整后的 OR 值。
rs760805 和 rs11249206 多态性的基因型分布在对照组中符合 HWE(P>0.05)。rs760805 的 TT 基因型在 AS 病例中比在对照组中更为常见(P=0.033),表明其与 AS 发病风险增加显著相关(OR=2.309,95%CI=1.069-4.892)。与 A 等位基因相比,rs760805 中的 T 等位基因携带也增加了 AS 的发生率(OR=1.578,95%CI=1.075-2.316,P=0.020)。此外,rs760805 中的 AT+TT 基因型和 rs11249206 中的 TT 基因型明显增加了 AS 发病的风险(OR=2.585,95%CI=1.062-6.288)。
RUNX3 rs760805 多态性可能导致中国人汉族人群 AS 的发生。这两种多态性的相互作用可能是 AS 的一个危险因素。