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TGF-β1-509C/T基因多态性与原发性膝骨关节炎的关系 被引量:4

Association of TGF-β1-509C/T gene polymorphisms with primary knee osteoarthritis
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摘要 目的探讨TGF-β1-509C/T基因多态性与原发性膝骨关节炎(primary knee osteoarthritis,PKOA)的相关性,为PKOA的发病机制、诊断和治疗提供一种新的方法。方法采用关联分析,随机选取湖南省中医药研究院附属医院PKOA患者88例,正常对照组89例,应用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)对所选对象TGF-β1-509位点基因和基因型进行检测。基因型及等位基因频率比较采用χ2检验;并以OR和95%可信区间(CI)表示相对风险度。结果 PKOA组和健康对照组TGF-β1-509C/T基因型的分布均符合Hardy-Weinberg平衡定律,所选人群具有代表性。PKOA组与健康对照组基因型频率和等位基因分布差异均有统计学意义,PKOA组CC基因型频率显著高于健康对照组(44.3%vs.13.5%,χ2=20.51,P=0.0000);C等位基因的频率显著高于对照组(65.9%vs.41.6%,χ2=21.08,P=0.0000),差异均有统计学意义。PKOA组轻型和重型CC基因型的频率比较(39.5%vs.48.9%,χ2=0.792,P=0.37)、C等位基因的频率比较(62.8%vs.68.9%,χ2=0.728,P=0.39),差异均无统计学意义。结论 TGF-β1-509C/T基因多态性与湖南地区人群PKOA相关,该位点等位基因C携带者可能是PKOA的易感人群。 Objective To explore the relation between the gene polymorphisms of transforming growth factor-β1(TGF-β1)promoter-509 C/T and primary knee osteoarthritis(PKOA),and to provide a new approach for the pathogenesis analysis,diagnosis and treatment of PKOA.Methods Correlation analysis was used in this study.88 patients with PKOA were randomly selected from the Affiliated Hospital of Hunan Institute of Traditional Chinese Medicine,and 89 healthy controls served as the controls.The TGF-β1-509 C/T gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The genotypes and allele frequencies were compared by chi-square test,and the relative risk was indicated by the OR and 95% confidence intervals(CI).Results The-509 C/T genotypic frequencies in the PKOA group and the control group both conformed to Hardy-Weinberg equilibrium,indicating that the selected population were representative.There were statistically significant differences in the genotypic frequencies and the distribution of alleles between the PKOA group and the healthy control group.The-509 CC genotypic frequency was significantly higher in the PKOA group than in the healthy control group(44.3% vs.13.5%,χ^2= 20.51,P = 0.0000).So was the-509 C allelic frequency(65.9% vs.41.6%,χ^2=21.08,P = 0.0000).No statistically significant differences were found in the-509 CC genotypic frequency(39.5% vs.48.9%,χ^2= 0.792,P = 0.37) and the-509 C allelic frequency(62.8% vs.68.9%,χ^2= 0.728,P = 0.39) between the mild PKOA group and the severe PKOA group.Conclusions The gene polymorphisms of transforming growth factor-β1 promoter-509 C/T are associated with PKOA in Hunan Province.The individuals carrying the-509 C allele may be more susceptible to PKOA.
出处 《实用预防医学》 CAS 2016年第8期900-903,共4页 Practical Preventive Medicine
基金 湖南省科技厅课题(2013FJ3152) 湖南省中医药研究院院级课题(201224)
关键词 原发性膝骨关节炎 转化生长因子Β1 基因多态性 聚合酶链式反应-限制性片段长度多态性 Primary knee osteoarthritis Transforming growth factor beta1 Genetic polymorphism Polymerase chain reaction-restriction fragment length polymorphism
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