TGF-β与IL-1β基因多态性与新疆地区汉族、维族人群OA的相关性研究

发布时间：2018-05-12 22:45

本文选题：原发性膝骨性关节炎 + TGF-β1　；参考：《石河子大学》2017年硕士论文

【摘要】：目的探索并分析转化生长因子β(transforming growth factor-beta1,TGF-β1)与白细胞介素1β(interleukin 1beta,IL-1β)基因中各基因型及等位基因频率与原发性膝骨性关节炎(primary knee osteoarthritis,PKOA)的相关性方法本研究利用现况调查的基本方法,对新疆地区汉族、维族中老年人群OA的患病情况进行流行病学调查,根据患者的症状及放射线改变的证据筛选出患有OA的患者及健康体检人群分别列入实验组对照组。采用聚合酶链式反应(polymerase chain reactionrestriction fragment length polymorphism,PCR-RFLP)技术,检测所有被研究者的TGF-β1-509C/T位点、-1348C/T位点以及IL-1β-511C/T位点的基因型,并对检测出的单核苷酸多态性进行统计学分析,并将扩增结果送入北京六合华大基因科技股份有限公司进行基因测序,得出TGF-β1、IL-1β的基因多态性与0A的关系。结果1.在对照组及OA组TGF-β1-509C/T、-1348C/T位点以及IL-1β-511C/T位点均检测出T、C两种等位基因,其有三种组合基因型:TT型、CT型、CC型。2.转化生长因子β1-1348C/T位点中汉族关节炎组CC、CT、TT的基因型频率分别为19、74、36,对照组中CC、CT、TT的基因型频率分别为73、134、37,并进行卡方检验,汉族关节炎与汉族对照组之间的χ2=14.986、检验统计量P=0.001;关节炎组等位基因C、T分别为112(0.43)、146(0.57),对照组等位基因分别为280(0.57)、208(0.43),OR为0.57,95%CI为(0.420~0.773)。3.白细胞介素1β-511C/T位点中维族关节炎组CC、CT、TT的基因型频率分别为15、27、30,对照组中CC、CT、TT的基因型频率分别为36、123、63,并进行卡方检验,汉族关节炎与汉族对照组之间的χ2=7.119、检验统计量P=0.028;维族关节炎组等位基因C、T分别为57(0.40)、87(0.60),维族对照组等位基因分别为195(0.44)、249(0.56),OR为0.837,95%CI为(0.570~1.227)。结论IL-1β-511C/T位点的TT基因型与维族关节炎的发生具有较高的相关性;TGF-β1-1348C/T位点的TT基因型与汉族关节炎的发生具有较高的相关性。
[Abstract]:Objective to explore and analyze the relationship between the frequencies of genotype and allele of transforming growth factor-beta1 (TGF- 尾 1) gene and interleukin-1 尾 interleukin 1beta1 尾 gene and primary knee osteoarthritis (PKOAA) in patients with primary knee osteoarthritis. The prevalence of OA in the Han and Uygur populations in Xinjiang was investigated. According to the symptoms of the patients and the evidence of radiographic changes, the patients with OA and the healthy people were selected as the control group. Polymerase chain reactionrestriction fragment length polymorphismPCR (PCR-RFLP) technique was used to detect the genotypes of TGF- 尾 1-509C/T locus and IL-1 尾 -511C / T locus in all the subjects, and the single nucleotide polymorphisms were analyzed statistically. The results of amplification were sent to Beijing Liuhe Huada Gene Technology Co., Ltd for gene sequencing. The relationship between gene polymorphism of TGF- 尾 1 and IL-1 尾 and 0A was obtained. Result 1. Two alleles of TGF- 尾 1-509C / TF- 1348C / T and IL-1 尾 -511C / T were detected in the control group and OA group. There were three genotypes of TGF- 尾 1-509C / T / T and IL-1 尾 -511C / T, and there were three genotypes of TGF- 尾 1-509C / TGF-1348C / T and IL-1 尾 -511C / T, respectively. The genotype frequencies of CTTTT in the Han nationality arthritis group were 1974f36 in the transforming growth factor 尾 1-1348C/T locus, and 73134r-37 in the control group, respectively, and chi-square test was performed. There was significant difference between the Han nationality arthritis group and the Han nationality control group (蠂 ~ 2 = 14.986, P < 0.001), the allele C _ (T) of the arthritis group was 112A 0.43 ~ (146N) 0.57, and the control group's OR was (0.57) ~ (0.57) ~ (th) ~ (0.43) (OR = 0.57 ~ (95) CI = 0.4200.773n 路3 respectively). The genotypic frequencies of CCT in Uygur arthritis group were 15 / 27 / 30 in IL-1 尾 -511C / T locus and 36123 / 63 in control group, respectively, and chi-square test was performed. There was significant difference between the Han nationality arthritis group and the Han nationality control group (蠂 2 / 7.119, P 0.028), the allele CnT of Uygur arthritis group was 570.40, the allele of Uygur nationality was 0.60, and the OR of Uygur control group was 1950.44 / 2490.56A / L = 0.83795CI = 0.5701.227a, respectively. Conclusion the TT genotype of IL-1 尾 -511C / T locus is highly correlated with the occurrence of Uygur arthritis. The TT genotype of TGF- 尾 1-1348C/T locus is highly correlated with the occurrence of arthritis in Han nationality.
【学位授予单位】：石河子大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R684.3

【参考文献】