中国汉族人群抽动秽语综合征遗传易感性与IL-17F基因多态性关系研究

发布时间：2018-02-13 16:04

本文关键词： 抽动秽语综合征 IL-17F基因单核苷酸多态性连锁不平衡　出处：《青岛大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的抽动秽语综合征(tourette syndrome,TS)是一种常伴随多种并发症的慢性神经系统疾病,发病较早,以不自主的运动抽动和(或)发声抽动为主要临床表现,发病机制尚不完全清楚。在本次研究中,我们将探讨中国汉族人群TS遗传易感性与IL-17F基因多态性的关系。方法本次研究我们收集了407个TS核心家系(包括325位男性TS患者和82位女性TS患者及其他/她们的生物学父母),另外征集417位健康查体者(包括321位男性和96位女性)作为本次研究的对照组。采用Taq Man探针实时荧光定量PCR技术(Taq Man Quantitative Real-time PCR,RT-PCR)对IL-17F基因的两个单核苷酸多态性位点(single nucleotide polymorphism,SNP)(rs1889570和rs763780)进行基因检测,基于家系的传递不平衡检验(transmission disequilibrium test,TDT)和单倍型相对风险分析(haplotype relative risk,HRR)用来估计其遗传易感性。另外,我们增加了病例对照分析来检测研究对象SNP位点的遗传学分布与TS发病的关系。所有的统计学方法均以p0.05为具有统计学意义的临界值。结果基于家系的研究表明IL-17F基因rs1889570和rs763780位点与TS发病之间不存在明显的遗传易感性(rs1889570:pTDT=0.266,pHRR=0.051;rs763780:pTDT=0.092,pHRR=0.083)。病例对照分析的卡方检验结果也表明病例组与对照组之间无显著差异(rs1889570:p基因型=0.188,p等位基因=0.211;rs763780:p基因型=0.105,p等位基因=0.555)。结论基于家系的关联分析以及经典的病例对照分析结果均证实IL-17F基因这两个SNP位点与中国汉族人群TS发病之间没有明显的关联。另外,我们注意到rs763780位点的TDT与HRR检验结果(p值)较为接近临界值,因此需要进一步加大样本量以验证。同时为确定其是否存在种族遗传易感性的差异,仍需在不同的地域和种族中进行验证。
[Abstract]:Objective Tourette syndrome (TS) is a kind of chronic nervous system disease with many complications, and its main clinical manifestation is involuntary motor twitching and / or vocal twitching. The pathogenesis is not entirely clear. In this study, We will explore the relationship between TS genetic susceptibility and IL-17F gene polymorphism in Chinese Han population. Methods in this study we collected 407 TS nuclear families (including 325 male TS patients and 82 female TS patients and others). In this study, 417 healthy examiners (321 male and 96 female) were recruited as control group. Taq Man probe real-time fluorescence quantitative PCR technique was used to detect IL-17F gene. Nucleotide polymorphism loci single nucleotide polymorphismSNPM rs1889570 and rs763780) were detected. Transmission disequilibrium test and haplotype relative risk analysis were used to estimate their genetic susceptibility. We increased the case-control analysis to detect the relationship between the genetic distribution of SNP loci and the incidence of TS. All statistical methods used p0. 05 as the threshold of statistical significance. There was no significant genetic susceptibility between the rs1889570 and rs763780 loci of IL-17F gene and TS. Rs1889570: pTDTT 0.266pHRRN 0.051rs763780: 1: pTDT0.092pHRRN 0.083. The results of Chi-square test in case-control analysis also showed that there was no significant difference between the case group and the control group in the allele 0.211rs763780: P (0.105p). Conclusion based on the pedigree association analysis and the classical case-control analysis, there is no significant association between the two SNP loci of IL-17F gene and the incidence of TS in Chinese Han population. We note that the TDT value of the rs763780 locus is closer to the critical value than the HRR test result, so we need to further increase the sample size to verify, and in order to determine whether there is a difference in racial genetic susceptibility, It still needs to be verified in different regions and races.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R749

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