白细胞介素-17 基因多态性与汉族人群骨关节炎易感性的相关性。
Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population.
机构信息
Department of Joint Surgery, the Third Hospital of Hebei Medical University, Shijazhuang, 050051, China.
Second Department of Orthopaedic, Central Hospital of Cangzhou City, Cangzhou, 061001, Hebei, China.
出版信息
BMC Med Genet. 2019 Jan 18;20(1):20. doi: 10.1186/s12881-018-0736-0.
BACKGROUND
Interleukin-17 (IL-17), a pleiotropic cytokine, plays a significant role in the inflammatory diseases. By a pilot study with small population, IL-17 polymorphisms (IL-17A rs2275913 and IL-17F rs763780) showed a more potential risk factor in knee osteoarthritis (OA) in our recruited subjects. In the current study, the association between IL-17A rs2275913 and IL-17F rs763780and the risk of OA in a Chinese population is studied.
METHODS
The IL-17A rs2275913 and IL-17F rs763780 polymorphisms were determined in 594 knee OA cases and 576 healthy controls, using polymerase chain reaction-restriction fragment length polymorphism assay. The relationship between genotype distribution and disease risk, as well as OA severity was analyzed by Chi-square test and multivariate logistic regression.
RESULTS
The experimental results indicated that the polymorphism in IL-17 gene rs2275913 site were related to knee OA risk after the adjustment of BMI, sex, age, smoking and drinking status (AA vs. GG: odds ratio (OR), 1.411; 95% confidence interval (CI), 1.021-1.950; P = 0.040; A allele vs. G allele: OR, 1.192; P = 0.037; 95% CI, 1.012-1.404;). Similarly, subjects who are bearing the rs763780 variant genotypes (TC and CC) and C allele also had a higher susceptibility to knee OA compared with those who are bearing the TT genotype (TC vs. TT, OR: 1.312; P = 0.039; 95% CI: 1.017-1.692; CC vs. TT, OR: 2.812, P = 0.006, 95% CI: 1.338-5.909; C allele Vs. T allele, OR:1.413, P = 0.002, 95% CI:1.141-1.751). In the meantime, one high-risk haplotypes, AC (OR was 7.22, P < 0.01) was found. Both two polymorphisms do not correlated with OA severity based on Kellgren-Lawrence (K&L) scales. Finally, serum IL-17 levels of knee OA patients were greatly higher than those of controls (P = 0.001).
CONCLUSIONS
With the limited size sample, our study shows that IL-17 gene polymorphisms possibly related to the high-risk knee OA occurrence.
背景
白细胞介素-17（IL-17）是一种多功能细胞因子，在炎症性疾病中发挥重要作用。通过对小样本的初步研究，我们发现在招募的研究对象中，IL-17 多态性（IL-17A rs2275913 和 IL-17F rs763780）与膝骨关节炎（OA）的风险有更密切的联系。在本研究中，我们研究了中国人群中 IL-17A rs2275913 和 IL-17F rs763780 与 OA 风险之间的关系。
方法
采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）方法，对 594 例膝骨关节炎患者和 576 例健康对照者的 IL-17A rs2275913 和 IL-17F rs763780 多态性进行检测。采用卡方检验和多因素 logistic 回归分析基因型分布与疾病风险以及 OA 严重程度的关系。
结果
实验结果表明，IL-17 基因 rs2275913 位点的多态性在调整 BMI、性别、年龄、吸烟和饮酒状态后与膝骨关节炎的发病风险有关（AA 与 GG：比值比（OR）为 1.411；95%置信区间（CI）为 1.021-1.950；P=0.040；A 等位基因与 G 等位基因：OR 为 1.192；P=0.037；95%CI 为 1.012-1.404）。同样，携带 rs763780 变异基因型（TC 和 CC）和 C 等位基因的受试者也较携带 TT 基因型的受试者更易患膝骨关节炎（TC 与 TT：OR 为 1.312；P=0.039；95%CI 为 1.017-1.692；CC 与 TT：OR 为 2.812，P=0.006，95%CI 为 1.338-5.909；C 等位基因与 T 等位基因：OR 为 1.413，P=0.002，95%CI 为 1.141-1.751）。同时，发现了一个高风险单倍型 AC（OR 为 7.22，P<0.01）。这两个多态性均与基于 Kellgren-Lawrence（K&L）评分的 OA 严重程度无关。最后，膝骨关节炎患者的血清 IL-17 水平明显高于对照组（P=0.001）。
结论
在样本量有限的情况下，我们的研究表明 IL-17 基因多态性可能与高危膝骨关节炎的发生有关。
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