冻结肩与正常人IL-1和受体拮抗剂的基因多态性  

Genetic polymorphism of IL-1 and receptor antagonists in frozen shoulder and normal subjects

作　　者：申成凯 臧业峰 刘坤 吕成昱[2] 赵海军 SHEN Cheng-kai;ZANGYe-feng;LIU Kun;LÜCheng-yu;ZHAO Hai-jun(Qingdao Jiaozhou Central Hospital,Jiaozhou,Shandong 266300,China;Affiliat-ed Hospital,Qingdao University,Qingdao,Shandong 266300,China)

机构地区：[1]青岛市胶州中心医院,山东胶州266300 [2]青岛大学附属医院,山东青岛266300

出　　处：《中国矫形外科杂志》2024年第24期2257-2263,2270,共8页Orthopedic Journal of China

基　　金：青岛市医药卫生科研指导项目(编号:2021-WJZD124);2022—2024年青岛市市级临床重点专科骨外科资助项目。

摘　　要：[目的]探索冻结肩(frozen shoulder,FS)与IL-1β和白细胞介素-1受体拮抗剂(interleukin-1 receptor antagonist,IL-1Ra)的基因多态性的相关性。[方法]选取2021年1月—2023年8月在青岛市胶州中心医院就诊的225例原发性或有该病病史的患者为冻结肩组,另275名正常人为正常组。通过聚合酶链反应和限制性片段长度多态性方法检测两组IL-1β基因位点的基因型,分析其单倍体与冻结肩患病风险率之间的相关性,并分析IL-1受体拮抗剂等位基因2(interleukin-l receptor antagonist allele*2,IL-1RN)不同基因型与冻结肩患病易感性的相关性。[结果]与野生型CC(未发生基因突变的基因型)相比,杂合子CT基因型(发生基因突变)的患者发生FS的风险显著升高(OR=1.952,95%CI 1.142~3.320,P=0.014),同时,IL-1B+3954位点的C基因可能是保护基因,IL-1B+3954位点具有C基因发生FS的风险显著降低(OR=0.577,95%CI 0.309~0.987,P=0.049)。IL-1B-31C/T位点CT基因型发生FS的风险显著高于TT型(OR=1.791,95%CI 1.171~2.742,P=0.004)。单倍体型分析发现,与最常见的CCT单体型相比较,单体型TTT与FS高风险发病率具有更强的相关性(OR=7.100,95%CI 1.492~33.870,P=0.014)。经非条件逻辑回归分析发现,IL-1RN(VNTR)的4种基因在两组之间的分布差异无统计学意义(P=0.521),IL-1RN基因变异型组(1/2和2/2)发生FS的风险是非变异组(1/1、1/3、1/4)的1.895倍,但结果差异无统计学意义(P>0.05)。[结论]在冻结肩组中IL-1β基因rs1143627与rs1143634位点的CT基因型与冻结肩的易感性相关;由3个基因位点形成的单倍体型TTT可能会增加罹患冻结肩的风险,在IL-1RN中未发现冻结肩的易感基因型。[Objective]To explore the relationship between frozen shoulder(FS)and gene polymorphism of IL-1βand interleukin-1receptor antagonist(IL-1Ra).[Methods]From January 2021 to August 2023,225 patients who were treated in our hospital were selected asthe frozen shoulder group,while other 275 normal persons as the normal group.The genotypes of the two groups in IL-1βgene loci were de-tected by polymerase chain reaction and restriction fragment length polymorphism.The correlation between the haploids and the risk rate offrozen shoulder disease was analyzed.In addition,the correlation between different genotypes of interleukin-l receptor antagonist allele*2,(IL-1RN)and the susceptibility to frozen shoulder disease was also analyzed.[Results]Compared with wild-type CC(non-mutated geno-type),patients with heterozygous CT genotype(mutated genotype)had a significantly higher risk of FS(OR=1.952,95%CI 1.142~3.320,P=0.014).The C gene at the IL-1B+3954 locus may be a protective gene,and the risk of FS in the C gene was significantly reduced at the IL-1B+3954 locus(OR=0.577,95%CI 0.309~0.987,P=0.049).The risk of FS for CT genotype at IL-1B-31C/T locus was significantly higherthan that for TT genotype(OR=1.791,95%CI 1.171~2.742,P=0.004).Haplotype analysis found that haplotype TTT was more strongly asso-ciated with a higher risk of FS than the most common CCT haplotype(OR=7.100,95%CI 1.492~33.870,P=0.014).Unconditional Logisticregression analysis showed that there was no statistically significant difference in the distribution of four genes of IL-1RN(VNTR)betweenthe two groups(P=0.521),and the risk of FS in the IL-1RN variant group(1/2 and 2/2)was 1.895 times higher than that in the non-variantgroup(1/1,1/3,1/4),whereas which was not statistically significant(P>0.05).[Conclusion]CT genotypes of IL-1βgene rs1143627 andrs1143634 were associated with susceptibility to frozen shoulder in frozen shoulder group.Haploid TTT formed by three gene loci may in-crease the risk of frozen shoulder,and no susceptibility genotype for frozen sho

关 键 词：白细胞介素-1Β 白细胞介素-1受体拮抗剂 冻结肩 

分 类 号：R687[医药卫生—骨科学]