Department of Orthopedics, The Yongchuan Hospital of Chongqing Medical University, Chongqing, China (mainland).
Department of Orthopaedic, The Yongchuan Hospital of Chongqing Medical University, Chongqing, China (mainland).
Med Sci Monit. 2017 Aug 26;23:4126-4131. doi: 10.12659/msm.902822.
BACKGROUND This research aimed to explore the effects of interferon-γ (IFN-γ) polymorphisms and expression profile on susceptibility to ankylosing spondylitis (AS) in a Chinese population. MATERIAL AND METHODS Blood samples were collected from 89 AS patients and 106 healthy controls. IFN-γ polymorphisms were genotyped by polymerase chain reaction (PCR) and sequencing methods. The genotype distribution of polymorphism in the control group was detected by Hardy-Weinberg equilibrium (HWE). Odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using the χ² test to evaluate the association between AS susceptibility and IFN-γ polymorphisms. Moreover, serum IFN-γ level was measured by ELISA. RESULTS rs1861493 and rs2430561 polymorphisms were conformed to be in HWE in genotypes distribution of the control group (P>0.05 for both). However, only TT genotype and T allele of rs2430561 presented significantly higher frequencies in AS patients than in healthy controls (P=0.04 and 0.03, respectively), indicating that they obviously increased the risk of AS in a Chinese population (OR=2.54, 95%CI=1.01-6.40; OR=1.60, 95%CI=1.04-2.46). In AS patients, serum IFN-γ level was higher than in controls, and its expression patterns showed significant association with genotypes of rs2430561. CONCLUSIONS IFN-γ rs2430561 polymorphism may contribute to the risk of AS through influencing IFN-γ expression.
背景 本研究旨在探讨干扰素-γ（IFN-γ）多态性及其表达谱对中国人强直性脊柱炎（AS）易感性的影响。
材料与方法 采集 89 例 AS 患者和 106 例健康对照者的血样。采用聚合酶链反应（PCR）和测序方法检测 IFN-γ 多态性。采用 Hardy-Weinberg 平衡（HWE）检测对照组多态性的基因型分布。采用 χ²检验评估 AS 易感性与 IFN-γ 多态性的关系，计算比值比（OR）及其 95%置信区间（95%CI）。采用 ELISA 法检测血清 IFN-γ 水平。
结果 rs1861493 和 rs2430561 多态性在对照组的基因型分布中符合 HWE（P>0.05）。然而，仅 rs2430561 的 TT 基因型和 T 等位基因在 AS 患者中的频率明显高于健康对照组（P=0.04 和 0.03），表明它们明显增加了中国人 AS 的发病风险（OR=2.54，95%CI=1.01-6.40；OR=1.60，95%CI=1.04-2.46）。在 AS 患者中，血清 IFN-γ 水平高于对照组，其表达模式与 rs2430561 的基因型明显相关。
结论 IFN-γ rs2430561 多态性可能通过影响 IFN-γ 表达而导致 AS 的发病风险增加。
