4p14区段rs6832151多态性与Graves病相关性研究

发布时间：2018-06-06 00:40

本文选题：格雷夫斯病 + 4p14　；参考：《蚌埠医学院》2015年硕士论文

【摘要】：目的:1.探讨中国安徽蚌埠地区汉族人群4p14区段rs6832151多态性与Graves病的相关性;2.进一步探讨4p14区段rs6832151位点与GD患者性别、年龄、促甲状腺激素受体抗体(TRAb)水平、眼征、甲状腺肿大程度等临床特征的相关性。方法:1.GD组来自2007年至2009年安徽蚌埠地区收集并诊断明确的GD患者617例,所有患者均无血缘关系,临床及实验室检查满足Graves病诊断标准。正常对照组为健康体检者4915人。采集详细的临床资料及研究对象外周血2ml,提取DNA。2.4p14区段rs6832151基因分型:用TaqMan探针技术对617例GD患者及4915例对照组成员的4p14区段rs6832151进行基因分型,比较两组该位点等位基因及基因型分布的差异,分析该位点多态性与GD发病的相关性。3.进一步分析4p14区段rs6832151基因型不同与GD临床特征之间的差异性,探讨该位点多态性与GD临床特征的相关性。结果:1.Rs6832151位点经基因分型得到GG、GT、TT三种基因型,病例组GG基因频率明显高于对照组为17.99%对11.96%;该位点等位基因G在病例组中的频率为42.70%,远远高于对照组的34.87%。Rs6832151_G与Graves病易感性关联显著(P=6.22×10-8,χ2=29.2,OR=1.39)。2.根据医学遗传学对rs6832151基因分型结果建立遗传模型:累加模型(additive model)、显性模型(dominant model)、隐性模型(recessive model)。在这3种遗传模型中,差异均有显著统计学意义(GGvsGTvsTT:χ2=26.69,P=3.57×10-7;GG+GTvsTT:χ2=21.04,P=4.50×10-6;GGvsGT+TT:χ2=18.04,P=2.17×10-5)。3.按照rs6832151_GG、GT、TT的3种基因型分为3个亚组,进一步对Graves病组该易感位点基因型与甲状腺肿大程度之间的关联进行了分析,结果表明临床特征如性别、年龄、促甲状腺激素受体抗体(TRAb)水平、眼征、甲状腺肿大程度在该位点基因型亚组之间的差异无统计学意义(P0.05)。结论:1.4p14上rs6832151是GD发病的易感位点,该位点的G等位基因为蚌埠地区人群Graves病的易感基因,能显著增加GD的发病风险。2.Rs6832151与GD临床特征如性别、年龄、促甲状腺激素受体抗体(TRAb)水平、眼征、甲状腺肿大程度未发现相关性。
[Abstract]:Purpose 1. To investigate the association between rs6832151 polymorphism in 4p14 region and Graves disease in Han population in Bengbu area, Anhui Province, China. To further investigate the correlation between rs6832151 locus of 4p14 region and sex, age, thyrotropin receptor antibody (THR) level, eye sign, degree of goitre in GD patients. Methods: 1. From 2007 to 2009, 617 GD patients were collected and diagnosed in Bengbu area, Anhui Province. All the patients were not related to each other. The clinical and laboratory examinations met the diagnostic criteria for Graves's disease. There were 4915 healthy persons in the control group. The detailed clinical data and peripheral blood 2ml were collected and the rs6832151 genotyping of DNA.2.4p14 segment was extracted. TaqMan probe technique was used to type the 4p14 region rs6832151 of 617 GD patients and 4915 controls. The alleles and genotypes of the locus were compared between the two groups, and the correlation between the polymorphism of the locus and the incidence of GD was analyzed. To further analyze the differences between rs6832151 genotypes of 4p14 region and GD clinical characteristics, and to explore the relationship between the polymorphism of rs6832151 locus and GD clinical characteristics. Results: 1. Three genotypes of GGG GTN TT were obtained by genotyping at Rs6832151. The frequency of GG gene in the case group was significantly higher than that in the control group (17.99% vs 11.96%), and the frequency of the allele G in the case group was 42.70%, which was significantly higher than that in the control group (P6.22 脳 10 ~ (-8). According to the results of rs6832151 genotyping in medical genetics, genetic models were established: additive model, dominant model and recessive model. Among the three genetic models, there were significant differences in GGvsGTvsTT: 蠂 ~ (2 +) (26.69) ~ (3.57 脳 10 ~ (-7) GG GTvsTT: 蠂 ~ (2 +) (21.04 脳 10 ~ (-6) ~ (4.50 脳 10 ~ (-6) GGvsGT: 蠂 ~ (18.04) P ~ (2.17) 脳 10 ~ (-5). According to the three genotypes of rs6832151GG GG GGG TT, they were divided into three subgroups. The association between the susceptibility locus genotype and the degree of thyroid enlargement in Graves disease group was further analyzed. The results showed that the clinical features such as sex, age, There was no significant difference in TRAbs, eye signs and goiters between genotype subgroups of this locus (P 0.05). Conclusion the G allele of rs6832151 on 1. 4 p14 is the susceptible site of GD. The G allele of G allele is the susceptible gene of Graves disease in Bengbu population, which can significantly increase the risk of GD. 2. Rs6832151 and GD clinical characteristics such as sex, age, etc. There was no correlation among thyrotropin receptor antibody (TRAb), eye sign and goitre.
【学位授予单位】：蚌埠医学院
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R581.1

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