本文選題：強(qiáng)直性脊柱炎 + 白介素22拷貝數(shù)變異　； 參考：《安徽醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:1.描述白介素22(interleukin 22,IL-22)基因拷貝數(shù)在中國漢族強(qiáng)直性脊柱炎(Ankylosing Spondylitis,AS)患者以及正常人群的分布情況;2.分析IL-22基因拷貝數(shù)變異(Copy Number Variations,CNVs)與AS遺傳易感性之間的關(guān)聯(lián);3.探討IL-22 CNVs與AS的疾病嚴(yán)重程度是否存在相關(guān)性,同時研究與IL-22CNVs在疾病發(fā)生發(fā)展過程中有交互作用的環(huán)境因素,為進(jìn)一步闡明AS的發(fā)病機(jī)制提供線索。方法:1.共收集2013-2016年間就診于安徽醫(yī)科大學(xué)第一附屬醫(yī)院風(fēng)濕免疫科的AS患者649例,按性別、年齡匹配的原則收集來自合肥市中心血站的健康志愿者為對照,共628例。抽取患者和健康對照外周血標(biāo)本5ml,同時用本課題組設(shè)計的流行病學(xué)調(diào)查表收集所有研究對象的一般人口學(xué)資料,以及患者的實(shí)驗(yàn)室指標(biāo),臨床特征資料等。2.采用DNA試劑盒(QIAGEN)提取AS病人及健康對照的DNA樣本,放于-80℃冰箱存放,最后應(yīng)用AccuCopy~(TM)多重基因拷貝數(shù)檢測技術(shù)測定IL-22基因拷貝數(shù)。3.兩組間定量資料的比較采用t檢驗(yàn),定性資料的比較以及IL-22拷貝數(shù)在兩組間分布情況分析采用χ~2檢驗(yàn),回歸模型用來分析CNVs與疾病嚴(yán)重程度的關(guān)聯(lián),CNVs與環(huán)境因素交互作用的分析采用單純病例研究。所有的統(tǒng)計分析在SPSS16.0中進(jìn)行,P0.05被認(rèn)為有統(tǒng)計學(xué)意義。結(jié)果:1.IL-22基因拷貝數(shù)在中國漢族AS患者和健康對照中的分布及比較:IL-22_1基因拷貝數(shù)有1和2,在AS患者中,1拷貝有4例(0.6%),2拷貝有626例(99.4%);對照組中,1拷貝有3例(0.5%),2拷貝有592例(99.5%);IL-22_2基因拷貝數(shù)范圍為1~3,病例組中,1拷貝有7例(1.1%),2拷貝有612例(98.6%),3拷貝有2例(0.3%);而對照組中,1拷貝有19例(3.2%),2拷貝有573例(96.8%),3拷貝有0例(0%)。IL-22_1拷貝數(shù)分布在病例組和對照組中差異無統(tǒng)計學(xué)意義(χ~2=0.092,P=1.000),而IL-22_2拷貝數(shù)在兩組間分布差異有統(tǒng)計學(xué)意義(χ~2=7.760,P=0.01)。考慮到IL-22_2基因3拷貝的變異頻率過低,僅0.3%,且在對照中未檢測到,對其剔除后,IL-22_2基因1拷貝和2拷貝在兩組間分布差異仍有統(tǒng)計學(xué)意義(χ~2=6.223,P=0.013)。按性別分組后,在男性中差異有統(tǒng)計學(xué)意義(χ~2=6.894,P=0.009)。2.IL-22基因拷貝數(shù)變異與AS疾病嚴(yán)重程度的關(guān)聯(lián)性分析:回歸分析法未發(fā)現(xiàn)IL-22拷貝數(shù)變異與疾病活動度(Bath Ankylosing Spondylitis Disease Activity Index,BASDAI)以及疾病功能指數(shù)(Bath Ankylosing Spondylitis Functional Index,BASFI)有關(guān)聯(lián)。3.IL-22_2基因拷貝數(shù)變異與環(huán)境交互作用的分析:偶爾食用蔬菜的病人與經(jīng)常食用的病人相比,基因環(huán)境交互作用為OR=8.93,95%CI=1.21-65.81,P=0.032,其他環(huán)境因素未發(fā)現(xiàn)與IL-22_2基因CNVs存在交互作用。結(jié)論:IL-22基因CNVs可能與AS易感性有關(guān),低拷貝數(shù)(=1)可能是AS發(fā)病的保護(hù)因素;IL-22基因CNVs不會影響AS的疾病嚴(yán)重程度;而基因環(huán)境交互作用分析發(fā)現(xiàn),食用蔬菜情況可能與IL-22基因拷貝數(shù)變異相互作用共同影響AS的發(fā)病。
[Abstract]:Purpose 1. To describe the distribution of interleukin-22 (IL-22) gene copy number in patients with ankylosing spondylitis (Ankylosing Spondylitis) and normal population in Chinese Han nationality. To analyze the association between copy Number variation (IL-22) and as genetic susceptibility. To explore the correlation between IL-22 CNVs and as severity, and to study the environmental factors that interact with IL-22CNVs in the process of disease development, and to provide clues for further elucidating the pathogenesis of as. Method 1: 1. A total of 649 patients with as from the Department of Rheumatology and Immunology, first affiliated Hospital of Anhui Medical University, were collected from 2013 to 2016. 628 healthy volunteers from Hefei Central Blood Station were collected as controls according to the principle of gender and age matching. The peripheral blood samples of patients and healthy controls were collected from 5 ml, and the general demographic data of all subjects were collected with the epidemiological questionnaire designed by our research group, as well as the laboratory indexes and clinical characteristics of patients. DNA samples from as patients and healthy controls were extracted by DNA kit QIAGEN and stored in a refrigerator at -80 鈩，

本文編號：1845565