汉族人群白细胞介素-6基因多态性与骨关节炎易感性的相关性研究  

Association of interleukin-6 gene polymorphisms with susceptibility to knee osteoarthritis in Chinese Han nationality population

作　　者：孟飞 崔林江 申成凯 吕成昱[3] Meng Fei;Cui Linjiang;Shen Chengkai;Lyu Chengyu(Department of Orthopaedics,Qingdao Central Hospital Group,Qingdao 266042,China;Department of Joint Trauma Surgery,Jiaozhou Center Hospital of Qingdao,Qingdao 266300,China;Department of Orthopaedics WardⅡJoint,Affiliated Hospital of Qingdao University,Qingdao 266555,China)

机构地区：[1]青岛市中心医疗集团创伤骨科,266042 [2]青岛市胶州中心医院关节创伤外科,266300 [3]青岛大学附属医院骨科二病区(关节),266555

出　　处：《中华实验外科杂志》2022年第4期745-748,共4页Chinese Journal of Experimental Surgery

基　　金：国家自然科学基金(NSFC 81171774、81272056)。

摘　　要：目的探讨汉族人群骨关节炎易感性与白细胞介素(IL)-6基因启动子区-174G/C基因多态性的相关性。方法选取青岛大学附属医院2012年3月至2013年3月收治的膝关节内外侧间隙高度差1.5 mm以上、Kellgren-Lawrance评分为3~4分的汉族原发性膝关节骨关节炎患者448例,招募汉族528例健康志愿者作为对照。采集静脉血,应用酶联免疫吸附测定法(ELISA)测定血清IL-6水平,并用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测IL-6基因启动子-174G/C(rs1800796)基因位点多态性,测序验证酶切结果。采用SNPstats软件(ICO,西班牙)进行Haedy-Weinberg(H-W)遗传平衡检验,以非条件Logistic软件回归分析估算单位点基因型与骨关节炎发病风险率,计算比值比(OR)、95%置信区间(CI)。采用Logistic回归分析方法比较不同基因型与骨关节发病风险间的关系。结果骨关节炎组中CC、GC、GG基因型频率分别为35.7%、53.6%和10.7%,对照组分别为68.2%、25.0%和6.8%。G等位基因的分布频率在骨关节炎组与对照组分别为37.5%和19.3%(χ^(2)=2.010,P<0.05),C等位基因分布频率为62.5%和80.7%(χ^(2)=3.103,P<0.05),组间差异均有统计学意义。携带G等位基因(GG或GC基因型)的研究对象其骨关节炎发病风险显著高于CC基因型者:GG基因型OR=1.842,95%CI(0.531~0.965);GC基因型OR=0.842,95%CI(1.721~2.027);CC基因型OR=0.792,95%CI(0.447~0.900)。结论在汉族人群中IL-6-174G/C基因多态性与原发性膝骨关节炎易感风险相关,且阳性位点GG、GC基因型为膝骨关节炎高风险因素,CC为低风险因素。Objective To investigate the relationship between the susceptibility of osteoarthritis in the Han population and the-174G/C gene polymorphism in the promoter region of interleukin(IL)-6 gene.Methods A total of 448 patients with primary knee osteoarthritis of Han nationality who were admitted to the Affiliated Hospital of Qingdao University were selected from March 2012 to March 2013 with a height difference of more than 1.5 mm between the medial and lateral knee joints and a Kellgren-Lawrance score of 3-4 points.A total of 528 healthy volunteers of Han nationality were recruited as controls.The venous blood was collected,and enzyme linked immunosorbent assay(ELISA)was used to measure serum IL-6 level,and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method was used to detect IL-6 gene promoter-174G/C(rs1800796)gene locus polymorphism.Sequencing was carried out to verify the results of restriction digestion.SNPstats software(ICO,Spain)was used to carry out the Haedy-Weinberg(HW)genetic balance test,the unconditional Logistic software regression analysis was used to estimate the genotype and the risk of osteoarthritis,and the odds ratio(OR)and 95%confidential interval(CI)were calculated.Logistic regression analysis was used to compare the relationship between different genotypes and the risk of bone and joint disease.Results The frequencies of CC,GC and GG genotypes in the osteoarthritis group were 35.7%,53.6%and 10.7%,respectively,and those in the control group were 68.2%,25.0%and 6.8%,respectively.The distribution frequency of the G allele in the osteoarthritis group and the control group was 37.5%and 19.3%(χ^(2)=2.010,P<0.05),and the distribution frequency of the C allele was 62.5%and 80.7%(χ^(2)=3.103,P<0.05).The differences between the groups were statistically significant.Subjects carrying the G allele(GG or GC genotype)had a significantly higher risk of osteoarthritis than the CC genotype:GG genotype,OR=1.842,95%CI(0.531-0.965);GC genotype,OR=0.842,95%CI(1.721-2.027);CC genoty

关 键 词：骨关节炎 白细胞介素-6 基因多态性 

分 类 号：R684.3[医药卫生—骨科学]