本文選題：帕金森病　切入點(diǎn)：危險(xiǎn)因素　出處：《新疆醫(yī)科大學(xué)》2015年博士論文

【摘要】：目的:①探討新疆地區(qū)散發(fā)性帕金森病(Sporadic Parkinson’s disease,SPD)的危險(xiǎn)因素以及維吾爾族和漢族SPD危險(xiǎn)因素的差異性。②探討新疆地區(qū)SPD患者臨床癥狀學(xué)特點(diǎn)以及維吾爾族和漢族SPD患者臨床癥狀學(xué)的差異性,并分析SPD患者認(rèn)知功能、睡眠質(zhì)量和情緒狀態(tài)3組非運(yùn)動(dòng)癥狀的影響因素。③探討新疆地區(qū)SPD患者ATP13A2基因Thr12Met和Ala1144Thr位點(diǎn)多態(tài)性以及維吾爾族和漢族SPD患者該基因位點(diǎn)多態(tài)性的差異性。方法:①新疆地區(qū)SPD危險(xiǎn)因素分析:SPD患者(PD組)400例(其中漢族SPD210例,維族SPD190例);健康成人(對(duì)照組)400例(其中漢族202例,維族198例)。所有受試者均完成基本情況調(diào)查表、廣泛性焦慮量表-7項(xiàng)(GAD-7)、病人健康問(wèn)卷抑郁量表-9項(xiàng)(PHQ-9)、蒙特利爾認(rèn)知評(píng)估量表(MoCA)和匹茲堡睡眠質(zhì)量指數(shù)(PSQI)評(píng)分,均進(jìn)行空腹血糖(FBG)、甘油三酯(TG)、總膽固醇(TC)、高密度脂蛋白(HDL-c)、低密度脂蛋白(LDL-c)、尿酸(UA)、同型半胱氨酸(Hcy)及C-反應(yīng)蛋白(CRP)水平檢測(cè)。分析SPD危險(xiǎn)因素,比較維吾爾族和漢族SPD危險(xiǎn)因素的差異性。②新疆地區(qū)SPD臨床癥狀學(xué)分析:受試者來(lái)源及方法同①,同時(shí)對(duì)SPD患者完成統(tǒng)一帕金森病評(píng)定量表(UPDRS)及Hoehn和Yahn(H-Y)分期,非運(yùn)動(dòng)癥狀評(píng)分量表,總結(jié)SPD患者臨床癥狀學(xué)特點(diǎn),比較維吾爾族和漢族SPD患者臨床癥狀學(xué)的差異性,并分析認(rèn)知功能、睡眠質(zhì)量和情緒狀態(tài)3組非運(yùn)動(dòng)癥狀的影響因素。③新疆地區(qū)SPD患者ATP13A2基因多態(tài)性分析:SPD患者(PD組)420例(其中漢族SPD220例,維族SPD200例)和健康成人(對(duì)照組)400例(其中漢族202例,維族198例)。采用聚合酶鏈反應(yīng)-限制性片段長(zhǎng)度多態(tài)性(PCR-RFLP)和基因測(cè)序方進(jìn)行ATP13A2基因亞型Thr12Met位點(diǎn)多態(tài)性分析;采用聚合酶鏈反應(yīng)(PCR)結(jié)合DNA直接測(cè)序法進(jìn)行ATP13A2基因亞型Ala1144Thr多態(tài)性分析。比較兩個(gè)民族SPD患者Thr12Met和Ala1144Thr位點(diǎn)的基因多態(tài)性的差異性。結(jié)果:①與對(duì)照組比較,PD組飲酒史和農(nóng)藥接觸史較高(17.00%vs 34.25%和4.75%vs 12.25%,P0.05),吸煙史、飲茶史及飲咖啡史較少(43.25%vs 20.25%、63.00%vs 29.25%和11.50%vs 6.75%,P0.05);與漢族PD組相比,維吾爾族PD組吸煙史和飲酒史較少(13.25%vs 7.00%和22.25%vs 12.00%,P0.05),飲茶史較多(11.25%vs 18.00%,P0.05),飲咖啡史和農(nóng)藥接觸史無(wú)差異(P0.05)。②與對(duì)照組比較,PD組TG、LDL-c和UA值較低(2.52±0.99 vs 1.97±0.88、2.78±0.65 vs 2.26±0.62和361.80±96.24 vs328.11±90.80,P0.05),Hcy值較高(8.90±4.49 vs 13.78±5.48,P0.05);與漢族PD組比較,維吾爾族PD組TG及LDL-c值較高(1.86±0.87 vs 2.07±0.89和2.00±0.62 vs 2.46±0.62,P0.05),TC、FBG、HDL-c、UA、Hcy和CRP值無(wú)差異(P0.05)。③首發(fā)癥狀、病程、起病年齡、UPDRS(I、II和III部分)及H-Y分級(jí)比較,維吾爾族和漢族PD組之間無(wú)差異(P0.05)。④SPD患者最常見(jiàn)的非運(yùn)動(dòng)癥狀是認(rèn)知功能障礙、焦慮、抑郁、便秘和疲乏,與漢族PD組比較,維族PD組便秘和疲乏癥狀更多見(jiàn)(P0.05)。⑤新疆地區(qū)SPD的發(fā)病與飲酒史、農(nóng)藥接觸史、Hcy值、PHQ-9和PSQI總分呈正相關(guān)(β分別為0.869、0.768、0.975、1.147和2.068),與吸煙史、飲茶史、飲咖啡史、TG、LDL-c和UA值呈負(fù)相關(guān)(β分別為-0.861、-2.613、-1.134、-2.155、-1.171和-2.914)。⑥與對(duì)照組比較,PD組MoCA、PSQI、PHQ-9和GAD-7異常率更高(5.75%vs 59.50%、6.25%vs 27.25%、7.50%vs45.50%和7%vs 58.25%,P0.05),其中MoCA評(píng)分與病程、體重和PHQ-9呈負(fù)相關(guān)(β分別為-0.833、-0.183和-0.330);PSQI評(píng)分與年齡、病程和PHQ-9呈正相關(guān)(β分別為0.718,0.156和0.148);PHQ-9總分與GAD-7呈正相關(guān)(β為0.631),與UA值呈負(fù)相關(guān)(β為-0.212)。MoCA、PSQI、PHQ-9和GAD-7評(píng)分及異常率比較,維吾爾族PD組和漢族PD組之間無(wú)差異(P0.05)。⑦新疆地區(qū)ATP13A2基因Thr12Met位點(diǎn)突變率為2/420(0.48%),Ala1144Thr位點(diǎn)突變率為1/420(0.24%);ATP13A2基因Thr12Met和Ala1144Thr位點(diǎn)多態(tài)性在PD組與對(duì)照組間、兩民族間、男女性別間以及早發(fā)性PD(Early-onset Parkinson’s disease,EOPD)與晚發(fā)性PD(Late-onset Parkinson’s disease,LOPD)間比較無(wú)顯著差異性(P0.05)。結(jié)論:①吸煙史、飲茶史及飲咖啡史是SPD的保護(hù)因素;飲酒史、農(nóng)藥接觸史、睡眠障礙及抑郁是SPD發(fā)病的危險(xiǎn)因素,低TG、低LDL-c、低UA和高Hcy增加SPD發(fā)病風(fēng)險(xiǎn);兩民族SPD在吸煙、飲酒、飲茶史、TG和LDL-c方面存在差異性;②SPD患者的認(rèn)知功能與病程、體重指數(shù)和抑郁程度相關(guān);睡眠障礙與年齡、病程和抑郁程度相關(guān);抑郁與焦慮程度和UA值相關(guān);兩民族SPD患者在非運(yùn)動(dòng)癥狀便秘和疲乏方面存在差異性。③ATP13A2基因亞型Thr12Met和Ala1144Thr位點(diǎn)突變率在新疆地區(qū)SPD中極低;這兩個(gè)位點(diǎn)的多態(tài)性在維吾爾族和漢族SPD中分布無(wú)顯著差異性。
[Abstract]:Objective: To explore the Xinjiang area of sporadic Parkinson's disease (Sporadic Parkinson s disease, SPD) the difference of the risk factors and risk factors of Uygur and Han SPD. To explore the characteristics of Uygur and Han patients with SPD and clinical symptoms of the differences of the clinical symptoms of SPD patients in Xinjiang area, and analyze the cognitive function of patients with SPD, the factors affecting the quality of sleep and mood state of 3 groups of non motor symptoms. The differences between patients with SPD in Xinjiang region ATP13A2 gene Thr12Met and Ala1144Thr polymorphism in Uygur and Han patients with SPD and the gene polymorphism of Xinjiang area. Methods: to analyze the risk factors of SPD patients with SPD (PD group) 400 cases (including in SPD210 cases, SPD190 cases); Uygur healthy adults (control group) 400 cases (including 202 cases of Han, Uygur 198 cases). All subjects completed the basic situation questionnaire, extensive anxiety Table -7 (GAD-7), patient health questionnaire depression -9 (PHQ-9), Montreal cognitive assessment scale (MoCA) and Pittsburgh sleep quality index (PSQI) score were fasting blood glucose (FBG), triglyceride (TG), total cholesterol (TC), high density lipoprotein (HDL-c), low density lipoprotein (LDL-c), uric acid (UA), homocysteine (Hcy) and C- reactive protein (CRP) level was detected. SPD analysis of risk factors, the differences between Uygur and Han SPD risk factors analysis in Xinjiang area. The clinical symptoms of SPD: the subjects and methods of the same source. At the same time to complete the unified Parkinson's disease rating scale of patients with SPD (UPDRS) and Hoehn (H-Y) and Yahn staging, non motor symptoms score, summarize the clinical symptoms of the patients with SPD characteristics, the difference between Uygur and Han patients with clinical symptoms of SPD, and analyze the cognitive function, sleep quality and emotional state of 3 groups exercise The analysis of the influence factors of symptoms. Patients with SPD in Xinjiang region ATP13A2 gene polymorphism in patients with SPD (PD group) 420 cases (including cases of Uygur Han SPD220, SPD200 cases) and healthy adults (control group) 400 cases (including 202 cases of Han, Uygur 198 cases). Using polymerase chain reaction restriction fragment length polymorphism of (PCR-RFLP) and gene sequencing analysis ATP13A2 gene of Thr12Met subtype polymorphism; polymerase chain reaction (PCR) combined with DNA direct sequencing analysis of ATP13A2 gene of Ala1144Thr subtype polymorphism. Differences between gene polymorphism comparison of two ethnic SPD patients Thr12Met and Ala1144Thr loci. Results: 1 and control compared to PD group, drinking history and the history of pesticide exposure is higher (17.00%vs 34.25% and 4.75%vs 12.25%, P0.05), smoking history, drinking history and drinking coffee history less (43.25%vs 20.25%, 63.00%vs 29.25% and 11.50%vs 6.75%, P0.05) and Han PD group; 鐩告瘮,緇村惥灝?dāng)鏃廝D緇勫惛鐑熷彶鍜岄ギ閰掑彶杈冨皯(13.25%vs 7.00%鍜，

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