IGF-1基因5'端功能性SNP与中国汉族人群膝关节骨关节炎的相关性研究  

Genetic polymorphism of IGF-1 in susceptibility to knee osteoarthritis in Chinese Han population

作　　者：鲁彪[1] 陈洪松[1] 王珂杰[1] 蒋旭[1] 戴进[1] 史冬泉[1] 蒋青[1] 

机构地区：[1]南京大学医学院附属鼓楼医院关节疾病治疗中心,南京210008

出　　处：《中国骨与关节外科》2012年第1期54-59,共6页Chinese Journal of Bone and Joint Surgery

摘　　要：背景:骨关节炎(osteoarthritis,OA)是最常见的关节炎,尤其在老年人群中发病率更高,它是包括遗传因素在内的多因素致病疾病。已有多项研究发现,许多基因与OA的易感性有密切关系。胰岛素样生长因子1(insulin likegrowth factor1,IGF-1)可以促进软骨细胞合成软骨中的细胞外基质。IGF-1及其受体在软骨的发育及成年后重塑阶段均具有重要功能,并可能与OA的病因具有相关性。目的:IGF-1基因启动子区域-1245C/T位点(rs35767)单核苷酸多态性(single nucleotide polymorphisms,SNP)与膝关节OA的关系。方法:采用序列特异性引物PCR及探针法,检测中国汉族人群中具有临床症状且有影像学证据的524例原发性膝关节OA患者与540例健康对照者IGF-1基因启动子区域-1245C/T位点等位基因分布,分析-1245C/T位点等位基因与膝关节OA的相关性。结果:OA组与正常对照组比较,IGF-1基因启动子区域-1245C/T位点的基因型频率及等位基因频率分布无显著性差异(P=0.35、0.14)。按OA严重程度分组(中重度组患者均为K/L分级3、4级,轻度组为K/L分级2级),中重度组与正常对照组比较,基因型分布无显著性差异(P=0.10),等位基因频率分布有显著性差异(P=0.04);但CC型与其它基因型(TT、TC)分布有显著性差异(P=0.03)。正常对照组中TT+TC所占比例较中重度OA组多,OR=1.36,CI=[1.03,1.80]。逻辑回归分析示,上述差异为年龄、BMI及性别差异所致,与rs35767的等位基因、基因型频率分布无显著相关性。结论:中国汉族人群的OA易感性与年龄、BMI、性别构成相关,与IGF-1基因启动子区域-1245C/T位点(rs35767)基因多态性可能无关。Background： Osteoarthritis （OA）, is the most common arthritis, especially in the elderly. Epidemiological studies haveshown that OA has a strong genetic component and several susceptibility genes for OA have been identified. Insulin - like growth factor 1 （ IGF - 1 ） stimulates the synthesis of extracellular matrix （ECM） in cartilage. IGF - 1 and its receptor play an important role in cartilage formation both during developmental stages and remodeling of adult cartilage, and may be rel- evant to the etiology of OA.Objective ： To evaluate the relationship between the single nucleotide polymorphisms （SNPs） of insulin-like growth factor 1 （IGF-1） rs35767 and knee osteoarthritis （OA）.Methods ： The IGF-1 SNP was genotyped in 524 patients with knee OA and 540 healthy control subjects and their associa- tion was evaluated statistically.Results： There were no significant differences of genotypic frequency and allele frequency between OA patients and health controls （P = 0. 35, 0. 14）. A positive association was found for patients with severe/moderate knee OA versus controls in the comparisons of CC with other genotypes （ OR = 1.36, CI = [ 1.03, 1. 801, P = 0. 03） and allelie frequency （ OR = 1.25, CI = [ 1.02, 1.54] , P = 0. 04）. Logistic regression analysis showed that the differences were caused by age, BMI and sex, and there was no significant difference between the polymorphism of IGF-1 rs35767 and knee OA susceptibility.Conclusions： The knee OA susceptivity is correlated to age, BMI and gender, but not correlated to the polymorphism of IGF-1 rs35767 in Han people of China.

关 键 词：胰岛素样生长因子1 骨关节炎 基因多态性 

分 类 号：R684.3[医药卫生—骨科学]