白细胞介素-1B基因连锁不平衡分析与骨性关节炎发病率的关系  

Correlation study of interleukin - 1B gene linkage disequilibrium and the incidence of osteoarthritis

作　　者：申成凯 赵海军 孙代同 赵希春 朱卫洁 赵军强 吕成昱[2] Shen Chengkai;Zhao Haijun;Sun Daitong;Zhao Xichun;Zhu Weijie;Zhao Junqiang;Lyu Chengyu(Department of Joint Trauma Surgery,Jiaozhou Center Hospital,Qingdao 266300,Chin;Department of Joint Surgery,the Affiliated Hospital of Medical College,Qingdao Univercity,Qingdao 266000,China)

机构地区：[1]青岛市胶州中心医院关节创伤外科,266300 [2]青岛大学医学院附属医院关节外科,266000

出　　处：《中华实验外科杂志》2018年第9期1761-1763,共3页Chinese Journal of Experimental Surgery

基　　金：青岛市卫生科技计划项目（2015-WJZD072）

摘　　要：目的探讨白细胞介素（IL）-1B基因中3个基因位点的连锁不平衡与骨性关节炎易感性的关联性。方法采用病例对照研究，纳入300例青岛地区骨性关节炎患者和300例健康对照者，采用聚合酶链反应和限制性片段长度多态性（PCR-RFL）对IL-lB基因的-511C／T（rsl6944）、＋3954C／T（rsll4363）和-31C／T（rsll43627）位点进行单核苷酸多态分析，并测序验证酶切结果，通过连锁不平衡分析软件分析骨性关节炎组和对照组中3个IL-1B基因位点的连锁不平衡状态。结果在骨性关节炎患者和对照组中，杂合子组中差异有统计-511CT、＋3954CT基因型与骨性关节炎高风险发病率相关，IL-1B基因3个位点间存在基因连锁不平衡，其中rsll43627与其他2个位点之间连锁不平衡程度在正常人群组和骨性关节炎学意义（P=0．016）。结论相对于其他位点，rsll43627位点与其他位点间的连锁不平衡在骨性关节炎发生中是一个易感因素。Objective To study the correlation of interleukin （IL） - 1 B three gene loci linkage disequilibrium and the susceptibility of osteoarthritis. Methods A case - control study that selecting 300 patients with osteoarthritis and 300 healthy control subjects in Qingdao region. The single nueleotide poly- merphisms （SNPs） at positions - 511C/T （ rs16944）, ＋ 3954C/T （ rs114363 ） and - 31C/T （rs1143627） in the IL - 1B gene promoter were analyzed using polymerase chain reaction restriction frag- ment length polymorphism （ PCR - RFLP） and sequencing digestion results. Linkage disequilibrium of IL - 1B three gene loci in osteoarthritis group and healthy group were analyzed using a linkage disequilibri- um analysis software. Results Heterozygous -511CT, ＋ 3954CT genotype were associated with the high risk incidence of osteoarthritis. There was linkage disequilibrium of IL - 1B gene in patients with OA and healthy group between three loci. Linkage disequilibrium between rs1143627 and other two loci in healthy group was significantly different than that in OA group （P = 0. 016）. Conclusion linkage disequilibrium of IL -1B zene rs1143627 locus is a risk factor in osteoarthritis.

关 键 词：白细胞介素-1B 连锁不平衡 骨性关节炎 

分 类 号：R684.3[医药卫生—骨科学]