【摘要】：目的:探索突觸體相關蛋白25(SNAP-25)基因多態(tài)性與中國兒童注意缺陷多動障礙(ADHD)的關聯性,為ADHD的病因學研究提供理論依據。方法:(1)關聯性研究:采用病例對照的設計,以到湖南省兒童醫(yī)院就醫(yī)的ADHD患兒192名作為病例組,以同期到該院健康體檢的192名正常兒童作為對照組。所有研究對象采集2ml靜脈血,同時現場詢問收集研究對象的人口學特征信息。提取全血DNA,采用Sequenom MassArray系統對SNAP-25基因的rs3746544和rs363006多態(tài)性位點進行基因分型。運用SPSS統計軟件,采用χ2檢驗分析病例組與對照組rs3746544和rs363006多態(tài)性位點的基因型和等位基因頻率有無差別。(2)Meta分析:檢索PubMed、Embase、Google Scholar及CNKI數據庫內所有SNAP-25與ADHD相關的文獻,根據遺傳學關聯研究報告規(guī)范(STREGA)評價文章質量,提取rs3746544和rs363006位點與ADHD關聯性研究的數據,運用R軟件metafor程序包計算納入文獻的合并統計量OR值及95%置信區(qū)間,并繪制森林圖,對本研究關聯性研究的結果進行驗證。此外,對SNAP-25基因的其他多態(tài)性位點(rs1051312、rs8636、rs362549、rs362998)與ADHD的關聯性做一個全面的Meta分析。結果:(1)關聯性研究:多態(tài)性位點rs3746544和rs363006在對照組人群中均符合HWE平衡。其中,rs3746544位點等位基因A能顯著增加ADHD的發(fā)病風險(OR=1.60,95%CI=1.10-2.32,P=0.013),而rs363006位點未與ADHD顯示出關聯性(OR=0.92,95%CI=0.59-1.42,P=0.692)。(2)Meta分析:rs3746544位點等位基因T(A)能顯著增加ADHD的發(fā)病風險(OR=1.20,95%CI=1.05-1.37,P=0.008),而rs363006位點未與ADHD顯示出關聯性(OR=1.02,95%CI=0.86-1.21,P=0.805),與本研究的關聯性研究結果一致。SNAP-25其他多態(tài)性位點rs10511312、rs8636、rs362549、rs362998與ADHD均無顯著關聯性。結論:本次關聯性研究發(fā)現SNAP-25基因多態(tài)位點rs3746544與ADHD的發(fā)病存在有統計學意義的關聯,Meta分析同樣支持該關聯,但這種關聯性還需要后續(xù)的功能學研究驗證。
[Abstract]:Objective: to explore the association of synaptosomal associated protein 25 (SNAP-25) gene polymorphism with attention deficit hyperactivity disorder (ADHD) in Chinese children and to provide a theoretical basis for the etiological study of ADHD. Methods: (1) correlation study: using a case-control design, 192 children with ADHD in Hunan Children's Hospital were selected as case group and 192 normal children as control group. 2ml venous blood was collected from all subjects, and demographic characteristics of the subjects were collected at the same time. Whole blood DNA, was extracted and genotyped by Sequenom MassArray system for rs3746544 and rs363006 polymorphism of SNAP-25 gene. Using SPSS statistical software, 蠂 2 test was used to analyze the difference of genotype and allele frequency of rs3746544 and rs363006 polymorphism loci between case group and control group. (2) Meta analysis: search PubMed,Embase, All SNAP-25 and ADHD related literature in Google Scholar and CNKI databases were evaluated according to the genetic association study report (STREGA) was used to evaluate the quality of the article, and the data of rs3746544 and rs363006 loci were extracted from ADHD correlation study. The combined statistical OR value and 95% confidence interval were calculated by using R software metafor package, and the forest map was drawn to verify the results of this study. In addition, a comprehensive Meta analysis of the association between other polymorphic loci (rs1051312,rs8636,rs362549,rs362998) of SNAP-25 gene and ADHD was made. Results: (1) Association study: polymorphism locus rs3746544 and rs363006 all accord with HWE balance in control group. The allele A of rs3746544 locus significantly increased the risk of ADHD (OR=1.60,95%CI=1.10-2.32,P=0.013), while the rs363006 locus was not correlated with ADHD (OR=0.92,95%CI=0.59-1.42,). Meta analysis of P0. 692). (2: rs3746544 allele T (A) could significantly increase the risk of ADHD (OR=1.20,95%CI=1.05-1.37,P=0.008). However, rs363006 locus showed no association with ADHD (OR=1.02,95%CI=0.86-1.21,P=0.805), which was consistent with the results of this study. There was no significant correlation between rs10511312,rs8636,rs362549,rs362998 and ADHD at other polymorphic SNAP-25 loci. Conclusion: this association study found that there was a statistically significant association between the polymorphic locus rs3746544 of SNAP-25 gene and the pathogenesis of ADHD, which was supported by Meta analysis, but this association needs to be verified by further functional studies.
【學位授予單位】：華中科技大學
【學位級別】：碩士
【學位授予年份】：2016
【分類號】：R749.94

【參考文獻】

相關期刊論文 前3條

1 高雪屏;蘇林雁;趙愛玲;羅學榮;夏昆;;谷氨酸/多巴胺系統5個候選基因14個多態(tài)性與注意力缺陷多動障礙的關聯[J];中國當代兒科雜志;2009年08期

2 楊慧明;毛萌;;注意缺陷多動障礙的診治進展[J];中華婦幼臨床醫(yī)學雜志(電子版);2006年06期

3 余燦清;詹思延;;如何撰寫高質量的流行病學研究論文 第二講 遺傳關聯性研究及其Meta分析的報告規(guī)范[J];中華流行病學雜志;2006年08期

相關碩士學位論文 前1條

1 陳麗婷;注意缺陷多動障礙兒童下丘腦—垂體—腎上腺皮質軸功能的研究[D];福建醫(yī)科大學;2013年

，

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