白细胞介素1B基因连锁不平衡与原发性冻结肩的易感性  

Association between interleukin-1B gene linkage disequilibrium and susceptibility to primary frozen shoulder

作　　者：申成凯 刘坤 刘伟良 吕成昱[3] 赵海军 Shen Chengkai;Liu Kun;Liu Weiliang;Lyu Chengyu;Zhao Haijun(Jiaozhou Center Hospital of Qingdao,Qingdao 266300,Shandong Province,China;The Fifth People’s Hospital of Qingdao,Qingdao 266000,Shandong Province,China;The Affiliated Hospital of Qingdao University,Qingdao 266000,Shandong Province,China)

机构地区：[1]青岛市胶州中心医院,山东省青岛市266300 [2]青岛市第五人民医院,山东省青岛市266000 [3]青岛大学附属医院,山东省青岛市266000

出　　处：《中国组织工程研究》2024年第27期4367-4372,共6页Chinese Journal of Tissue Engineering Research

基　　金：青岛市医药卫生科研指导项目(2021-WJZD124),项目负责人:申成凯。

摘　　要：背景:国内外大量文献证实白细胞介素1β的升高与原发性冻结肩相关,白细胞介素1B(IL-1B)基因多态性能够影响白细胞介素1β相关基因的转录及蛋白表达,使得体内细胞因子水平发生改变,从而改变原发性冻结肩的发生率。拟通过对白细胞介素1B基因多态性与原发性冻结肩易感性的研究,从分子生物学角度为原发性冻结肩的发病机制探索新的突破口,寻找原发性冻结肩的易感基因。目的:探索白细胞介素1B基因中3个基因位点连锁不平衡与原发性冻结肩易感性的关联性。方法:采用病例对照研究,将研究对象分为2组,一组为184例原发性冻结肩患者,另一组为260名健康对照人群。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白细胞介素1B基因位点-511C/T(rs16944)、+3954C/T(rs1143634)和-31C/T(rs1143627)的基因型,并比较分析这3个位点连锁不平衡概率以及形成单倍体与原发性冻结肩患病风险率之间的相关性。结果与结论:经非条件Logistic回归分析发现,在原发性冻结肩中rs1143634位点和rs1143627位点CT基因型比例明显增加且差异有显著性意义;连锁不平衡分析显示对照组中rs16944、rs1143634、rs1143627位点趋于平衡(D’值<0.1),而原发性冻结肩组中rs1143627与rs1143634位点之间存在一定程度上的连锁不平衡(D’值=0.595);单倍体型TTT相较于CCT型可使得原发性冻结肩风险增加6.66倍(TTT,OR=6.66,95%CI=1.59-27.88,P=0.0097)。结果表明,在原发性冻结肩患者中白细胞介素1B基因rs1143627与rs1143634位点之间存在一定程度上的连锁不平衡;由3个基因位点形成的单倍体型TTT可能会增加罹患原发性冻结肩的风险。BACKGROUND:A large number of domestic and international documents have confirmed that elevated interleukin-1β is associated with primary frozen shoulder.Interleukin-1B gene polymorphisms can affect the transcription and protein expression of interleukin 1β-related genes,resulting in altered levels of cytokines in vivo,and thus altering the incidence of primary frozen shoulder.Through the study of interleukin-1B gene polymorphism and susceptibility to primary frozen shoulder,this study aimed to explore new breakthroughs in the pathogenesis of primary frozen shoulder from the perspective of molecular biology,and to search for susceptibility genes of primary frozen shoulder.OBJECTIVE:To explore the association between linkage disequilibrium of three gene loci in interleukin-1B gene and susceptibility to primary frozen shoulder.METHODS:A case-control study was conducted.There were two groups in this study.One group consisted of 184 patients with primary frozen shoulder,while the other group included 260 healthy controls.The genotypes of interleukin-1B gene loci-511C/T(rs16944),+3954C/T(rs1143634),and-31C/T(rs1143627)were detected by polymerase chain reaction and restriction fragment length polymorphism.The correlation between the probability of linkage disequilibrium and haplotypes and the risk of primary frozen shoulder disease was compared and analyzed.RESULTS AND CONCLUSION:Unconditional Logistic regression analysis showed that the proportion of CT genotypes at rs1143634 and rs1143627 sites increased significantly in the primary frozen shoulder.Linkage disequilibrium analysis showed that rs16944,rs1143634 and rs1143627 tended to be balanced in the control group(D’value<0.1),while there was a certain degree of linkage disequilibrium at rs1143627 and rs1143634 sites in the primary frozen shoulder group(D’value=0.595).Haplotype TTT increased the risk of primary frozen shoulder by 6.66 times compared with CCT type(TTT,OR=6.66,95%CI=1.59-27.88,P=0.0097).To conclude,there is a certain degree of linkage disequilibr

关 键 词：原发性冻结肩 白细胞介素1B 连锁不平衡 基因多态性 基因位点 基因型 

分 类 号：R459.9[医药卫生—治疗学] R318[医药卫生—临床医学] R684