Department of Orthopedics, Harrison International Peace Hospital, The People's Hospital of Hengshui City, Hengshui, China.
J Cell Mol Med. 2020 Sep;24(18):10615-10620. doi: 10.1111/jcmm.15680. Epub 2020 Jul 30.
The case-control study was designed to investigate the genetic effects of interferon-gamma (IFN-γ) rs2069727 and rs1861494 polymorphisms on ankylosing spondylitis (AS) susceptibility in a Chinese Han population. Blood samples were collected from 108 AS patients and 110 healthy controls. IFN-γ polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Hardy-Weinberg equilibrium (HWE) test was performed in control group. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using chi-square test to evaluate the association between AS susceptibility and IFN-γ polymorphisms, and the results were adjusted by logistic regressive analysis. The frequency of rs2069727 CC genotype was much higher in cases than that in controls, suggested its significant association with increased AS risk (adjusted OR = 5.899, 95% CI = 1.563-22.261; P = .009). In addition, C allele also showed close association with increased risk of AS (adjusted OR = 2.052, 95% CI = 1.286-1.704, P = 0 .003). While the genotype and allele frequencies of IFN-γ rs1861494 polymorphism were not significantly different between patients and controls (P > 0.05 for all), IFN-γ rs2069727 polymorphism is significantly associated with increased AS risk in a Chinese Han Population.
这项病例对照研究旨在探讨干扰素-γ（IFN-γ）rs2069727 和 rs1861494 多态性对中国汉族人群强直性脊柱炎（AS）易感性的遗传影响。采集了 108 例 AS 患者和 110 例健康对照者的血样。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对 IFN-γ 多态性进行基因分型。在对照组中进行 Hardy-Weinberg 平衡（HWE）检验。采用卡方检验计算优势比（OR）及其 95%置信区间（95%CI），评估 IFN-γ 多态性与 AS 易感性之间的关联，并通过逻辑回归分析进行调整。病例组 rs2069727 CC 基因型的频率明显高于对照组，表明其与 AS 风险增加显著相关（调整 OR=5.899，95%CI=1.563-22.261；P=0.009）。此外，C 等位基因也与 AS 发病风险增加密切相关（调整 OR=2.052，95%CI=1.286-1.704，P=0.003）。而 IFN-γ rs1861494 多态性的基因型和等位基因频率在病例组和对照组之间无显著差异（P>0.05），IFN-γ rs2069727 多态性与中国汉族人群 AS 发病风险显著相关。
