PPAR-γ prol12ala基因多态性与甲状腺相关性眼病的相关性研究
发布时间：2018-11-05 14:59
【摘要】：目的：甲状腺相关性眼病（Thyroid Associated Ophthalmopathy，TAO）,又被称为甲状腺相关免疫眼眶病变（TRIO），它是一种自身免疫性疾病，最多见于成年人当中,女性较男性多见，以眼球后及眼眶周围组织中的炎性浸润性病变为其主要的特征，该病与自身免疫性的甲状腺疾病关系密切[1]。众多研究表明了，该疾病的发生、发展与遗传因素的参与密不可分，换言之，该疾病有一定的遗传倾向，即遗传易感性。过氧化物酶体增殖激活受体-γ（Peroxisome proliferator activated receptor gamma，PPARγ）是一种转录因子,其在脂肪细胞的分化过程中，，起着非常重要的作用。且有实验研究的结果表明：在TAO患者的眼球后脂肪组织及结缔组织当中，PPAR-γ基因的表达水平,要明显地比正常对照组高,这项研究即从基因水平，表明了PPAR-γ基因的高表达，可能是导致TAO发生、发展的最为重要的因素之一[2]。本实验通过研究过氧化物酶体增殖激活受体-γ（PPAR-γ）pro12ala位点的基因多态性在山西地区部分汉族人群当中的分布特点，及其与山西汉族部分人群当中TAO疾病发生的关联性。从而，探讨TAO可能的发病机理及其遗传背景，同时也可以为TAO的预防、诊断、治疗，提供一定的实验依据及理论参考。 方法：研究对象共计166例，分三组，TAO组患者共有51例, Graves病(GD)组患者共有55例及正常对照组（CON）60例,分别抽取来自研究对象的外周静脉血（加抗凝剂）3ml，继而提取研究对象的基因组的DNA，采取PCR-RFLP的方法，即聚合酶链式反应—限制性片段长度多态性的方法，又称为CAPs技术，来检测本研究对象中PPAR-γpro12ala位点的基因型与等位基因的频率。然后应用SPSS17.0统计学软件对数据进行分析，分别读取每个样本的基因型及等位基因，各组间的等位基因及基因型频率的比较均采用卡方检验进行分析[3]。 结果：G等位基因：TAO组频率（27.8%）明显高于GD组及正常对照组(13.6%, 13.3% )(P 0.05) ; CG+GG基因型频率：TAO患者组(52. 9%)要明显高于GD患者组及正常对照组(25.5%, 26. 7%)(P 0.05)；GD组、正常对照组在等位基因及基因频率分布上的差异没有统计学意义。 结论：（1）山西地区部分汉族人群中PPAR-γpro12ala位点的基因存在多态性。（2）PPAR-γpro12ala位点基因多态性可能与山西地区部分汉族人群中TAO的发病具有相关性。
[Abstract]:Objective: thyroid associated ophthalmopathy (Thyroid Associated Ophthalmopathy,TAO), also known as thyroid associated immune orbital disease (TRIO), is an autoimmune disease most commonly seen in adults and more common in women than in men. Inflammatory infiltrating lesions in the posterior eye and periorbital tissues are the main features of the disease, which is closely related to autoimmune thyroid disease [1]. Many studies have shown that the occurrence and development of the disease is closely related to the participation of genetic factors, in other words, the disease has a certain genetic tendency, that is, genetic susceptibility. Peroxisome proliferation-activated receptor-纬 (Peroxisome proliferator activated receptor gamma,PPAR 纬 is a transcription factor, which plays an important role in adipocyte differentiation. The results of experimental study showed that the expression of PPAR- 纬 gene was significantly higher than that of the normal control group in TAO patients' retroocular adipose tissue and connective tissue. This study was based on the gene level. These results suggest that the overexpression of PPAR- 纬 gene may be one of the most important factors leading to the occurrence and development of TAO [2]. In this study, we studied the distribution of peroxisome proliferation-activated receptor-纬 (PPAR- 纬) pro12ala gene polymorphism in some Han population in Shanxi and its association with TAO disease in Shanxi Han population. Therefore, the possible pathogenesis and genetic background of TAO can be discussed, and it can also provide experimental basis and theoretical reference for the prevention, diagnosis and treatment of TAO. Methods: a total of 166 patients were divided into three groups: 51 patients in TAO group, 55 patients in (GD) group with Graves disease and 60 patients in normal control group. Then the genomic DNA, of the study object was extracted by the method of PCR-RFLP, that is, polymerase chain reaction-restriction fragment length polymorphism (RFLP), also known as CAPs technique. To detect the genotype and allele frequency of PPAR- 纬 pro12ala locus in this study. Then the data were analyzed by SPSS17.0 software, and the genotypes and alleles of each sample were read respectively. The comparison of alleles and genotype frequencies among each group was analyzed by chi-square test [3]. Results: G allele: the frequency of G allele in TAO group (27.8%) was significantly higher than that in GD group and normal control group (13.6%, 13.3%) (P 0.05); CG GG genotype frequency: TAO group (52%). It was significantly higher than that in the GD group and the normal control group (25. 5%, 26. 5%). There was no significant difference in allele and gene frequency distribution between the 7%) (P 0. 05); GD group and the normal control group. Conclusion: (1) there is polymorphism in PPAR- 纬 pro12ala locus in Shanxi Han population. (2) PPAR- 纬 pro12ala gene polymorphism may be associated with TAO in Shanxi Han population.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R771.3
[Abstract]:Objective: thyroid associated ophthalmopathy (Thyroid Associated Ophthalmopathy,TAO), also known as thyroid associated immune orbital disease (TRIO), is an autoimmune disease most commonly seen in adults and more common in women than in men. Inflammatory infiltrating lesions in the posterior eye and periorbital tissues are the main features of the disease, which is closely related to autoimmune thyroid disease [1]. Many studies have shown that the occurrence and development of the disease is closely related to the participation of genetic factors, in other words, the disease has a certain genetic tendency, that is, genetic susceptibility. Peroxisome proliferation-activated receptor-纬 (Peroxisome proliferator activated receptor gamma,PPAR 纬 is a transcription factor, which plays an important role in adipocyte differentiation. The results of experimental study showed that the expression of PPAR- 纬 gene was significantly higher than that of the normal control group in TAO patients' retroocular adipose tissue and connective tissue. This study was based on the gene level. These results suggest that the overexpression of PPAR- 纬 gene may be one of the most important factors leading to the occurrence and development of TAO [2]. In this study, we studied the distribution of peroxisome proliferation-activated receptor-纬 (PPAR- 纬) pro12ala gene polymorphism in some Han population in Shanxi and its association with TAO disease in Shanxi Han population. Therefore, the possible pathogenesis and genetic background of TAO can be discussed, and it can also provide experimental basis and theoretical reference for the prevention, diagnosis and treatment of TAO. Methods: a total of 166 patients were divided into three groups: 51 patients in TAO group, 55 patients in (GD) group with Graves disease and 60 patients in normal control group. Then the genomic DNA, of the study object was extracted by the method of PCR-RFLP, that is, polymerase chain reaction-restriction fragment length polymorphism (RFLP), also known as CAPs technique. To detect the genotype and allele frequency of PPAR- 纬 pro12ala locus in this study. Then the data were analyzed by SPSS17.0 software, and the genotypes and alleles of each sample were read respectively. The comparison of alleles and genotype frequencies among each group was analyzed by chi-square test [3]. Results: G allele: the frequency of G allele in TAO group (27.8%) was significantly higher than that in GD group and normal control group (13.6%, 13.3%) (P 0.05); CG GG genotype frequency: TAO group (52%). It was significantly higher than that in the GD group and the normal control group (25. 5%, 26. 5%). There was no significant difference in allele and gene frequency distribution between the 7%) (P 0. 05); GD group and the normal control group. Conclusion: (1) there is polymorphism in PPAR- 纬 pro12ala locus in Shanxi Han population. (2) PPAR- 纬 pro12ala gene polymorphism may be associated with TAO in Shanxi Han population.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R771.3
【参考文献】
相关期刊论文 前3条
1 阎胜利;Graves病与环境因素[J];山东医药;2005年07期
2 杨宝军;李险峰;陆克义;胡光;李思进;;~(99m)Tc-DTPA眼眶显像在甲状腺相关性眼病中的临床应用[J];山西医科大学学报;2009年06期
3 武s
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