【摘要】：目的：甲狀腺相關(guān)性眼病（Thyroid Associated Ophthalmopathy，TAO）,又被稱(chēng)為甲狀腺相關(guān)免疫眼眶病變（TRIO），它是一種自身免疫性疾病，最多見(jiàn)于成年人當(dāng)中,女性較男性多見(jiàn)，以眼球后及眼眶周?chē)M織中的炎性浸潤(rùn)性病變?yōu)槠渲饕奶卣�，該病與自身免疫性的甲狀腺疾病關(guān)系密切[1]。眾多研究表明了，該疾病的發(fā)生、發(fā)展與遺傳因素的參與密不可分，換言之，該疾病有一定的遺傳傾向，即遺傳易感性。過(guò)氧化物酶體增殖激活受體-γ（Peroxisome proliferator activated receptor gamma，PPARγ）是一種轉(zhuǎn)錄因子,其在脂肪細(xì)胞的分化過(guò)程中，，起著非常重要的作用。且有實(shí)驗(yàn)研究的結(jié)果表明：在TAO患者的眼球后脂肪組織及結(jié)締組織當(dāng)中，PPAR-γ基因的表達(dá)水平,要明顯地比正常對(duì)照組高,這項(xiàng)研究即從基因水平，表明了PPAR-γ基因的高表達(dá)，可能是導(dǎo)致TAO發(fā)生、發(fā)展的最為重要的因素之一[2]。本實(shí)驗(yàn)通過(guò)研究過(guò)氧化物酶體增殖激活受體-γ（PPAR-γ）pro12ala位點(diǎn)的基因多態(tài)性在山西地區(qū)部分漢族人群當(dāng)中的分布特點(diǎn)，及其與山西漢族部分人群當(dāng)中TAO疾病發(fā)生的關(guān)聯(lián)性。從而，探討TAO可能的發(fā)病機(jī)理及其遺傳背景，同時(shí)也可以為T(mén)AO的預(yù)防、診斷、治療，提供一定的實(shí)驗(yàn)依據(jù)及理論參考。 方法：研究對(duì)象共計(jì)166例，分三組，TAO組患者共有51例, Graves病(GD)組患者共有55例及正常對(duì)照組（CON）60例,分別抽取來(lái)自研究對(duì)象的外周靜脈血（加抗凝劑）3ml，繼而提取研究對(duì)象的基因組的DNA，采取PCR-RFLP的方法，即聚合酶鏈?zhǔn)椒磻?yīng)—限制性片段長(zhǎng)度多態(tài)性的方法，又稱(chēng)為CAPs技術(shù)，來(lái)檢測(cè)本研究對(duì)象中PPAR-γpro12ala位點(diǎn)的基因型與等位基因的頻率。然后應(yīng)用SPSS17.0統(tǒng)計(jì)學(xué)軟件對(duì)數(shù)據(jù)進(jìn)行分析，分別讀取每個(gè)樣本的基因型及等位基因，各組間的等位基因及基因型頻率的比較均采用卡方檢驗(yàn)進(jìn)行分析[3]。 結(jié)果：G等位基因：TAO組頻率（27.8%）明顯高于GD組及正常對(duì)照組(13.6%, 13.3% )(P 0.05) ; CG+GG基因型頻率：TAO患者組(52. 9%)要明顯高于GD患者組及正常對(duì)照組(25.5%, 26. 7%)(P 0.05)；GD組、正常對(duì)照組在等位基因及基因頻率分布上的差異沒(méi)有統(tǒng)計(jì)學(xué)意義。 結(jié)論：（1）山西地區(qū)部分漢族人群中PPAR-γpro12ala位點(diǎn)的基因存在多態(tài)性。（2）PPAR-γpro12ala位點(diǎn)基因多態(tài)性可能與山西地區(qū)部分漢族人群中TAO的發(fā)病具有相關(guān)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-緯 (Peroxisome proliferator activated receptor gamma,PPAR 緯 is a transcription factor, which plays an important role in adipocyte differentiation. The results of experimental study showed that the expression of PPAR- 緯 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- 緯 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-緯 (PPAR- 緯) 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- 緯 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- 緯 pro12ala locus in Shanxi Han population. (2) PPAR- 緯 pro12ala gene polymorphism may be associated with TAO in Shanxi Han population.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類(lèi)號(hào)】：R771.3

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相關(guān)期刊論文 前3條

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本文編號(hào)：2312432