陳為堅臺灣大學：流行病學研究所林曉帆Lin, Hsiao-FanHsiao-FanLin2007-11-272018-06-292007-11-272018-06-292004http://ntur.lib.ntu.edu.tw//handle/246246/56232目的：探討台北市國中生的Neuregulin 1 基因(NRG1)與精神分裂性人格特質(schizotypal personality)和持續注意力(sustained attention)的關係。 方法：利用多階段隨機抽樣方式於西元1996年選出905名台北市國中生，完成以下自填式問卷：知覺偏差量表(PAS)、精神分裂性人格量表(SPQ)，以及連續性表現測驗(CPT)。同時收集研究對象的漱口水，萃取DNA，以MALDI-TOF質譜分析法鑑定NRG1上的SNP8NRG221533、rs3924999和rs2954041三個單一核苷酸多形性(SNP)。於單一基因座分析部分，進行變異數分析，多基因座部分，則使用半型趨勢回歸(Haplotype Trend Regression)分析決定此三個基因變異性和精神分裂型人格及持續注意力的關係。 結果：精神分裂性人格分數、精神分裂性人格量表總分與失序表現(Disorganization) 分數均與單一核苷酸多形性rs3924999有顯著相關，然，持續注意力方面無任何相關發現。在多基因座分析的部分，半形組成包含rs3924999者與精神分裂性人格分數、精神分裂性人格量表總分有顯著相關。但是，知覺偏差得分和NRG1基因的相關性，比起精神分裂性人格量表得分與基因的相關性，較為顯著。 結論：此篇研究首度探討精神分裂性性格和NRG1基因的相關性，而且也發現正相關，與之前精神分裂症的研究結果相同。我們推論NRG1應是精神分裂性人格中的正性表現的候選基因。Objective. To examine the associations of Neuregulin 1 (NRG1) gene with schizotypal personality features and NRG1 gene with sustained attention deficit among junior high school students in Taipei. Methods. Study subjects were 905 adolescents randomly selected from junior high schools in Taipei in 1996. Self-report questionnaires, the Perceptual Aberration Scale (PAS) and the Schizotypal Personality Questionnaire (SPQ), and the Continuous Performance Test (CPT) were administered. DNA extracted from subjects’ mouthwashing, was used to type three SNPs in NRG1, SNP8NRG221533, rs3924999 and rs2954041, by using the method of matrix-assisted laser desorption/ionisation-time of flight mass spectrometry. We performed ANOVA for single-locus analyses and haplotype trend regression test for multi-locus analyses to determine the association between the three genetic variants and schizotypal personality and sustained attention. Results. The PAS score, the SPQ total score and the Disorganization were significantly related to the SNP rs3924999, whereas sustained attention was not. In multi-locus analyses, haplotypes containing rs3924999 were associated with the PAS score and the SPQ total score. However, the relation was more significant between the PAS score and NRG1 rather than that between the SPQ total score and NRG1. Conclusions. This is the first research on schizotypal personality and NRG1, and our finding was as positive as reported on schizophrenia. We concluded that NRG1 maybe the candidate gene for schizotypal personality features in the positive dimension.CONTENT Acknowledgment I Abstract III Abstract (in Chinese) IV Content V List of tables VI Introduction 1 Subjects and Methods Subjects 4 Measurement instruments 4 Continuous Performance test (CPT) 5 Genomic DNA preparation 6 SNP Genotyping 6 Statistical analyses 8 Results 10 Discussion 13 References 16 Appendices I. The intermixture questionnaire of the Perceptual Aberration Scale (PAS), the Schizotypal Personality Questionnaire (SPQ) and the Chinese Health Questionnaire (CHQ) (in Chinese) 29 II. Scoring method of the PAS and the SPQ 34 LIST OF TABLES Table 1. PCR primers and Extension primers of the SNPs on NRG1 22 Table 2. Demographic characteristics and measurements of PAS, SPQ and CPT performance of students 23 Table 3. Genotype distribution and allele frequency of the SNPs 24 Table 4. The distributions of the PAS and SPQ scores by the genotype of each of the three SNPs of NRG1 25 Table 5. The distributions of the CPT indices by the genotype of each of the three SNPs of the NRG1 26 Table 6. Estimate haplotype frequency and mean schizotypal scores in each two-locus haplotype (n = 905) 27 Table 7. Estimate haplotype frequency and mean schizotypal scores in each three-locus haplotype (n = 905) 28445144 bytesapplication/pdfen-US精神分裂性人格量表持續注意力精神分裂性性格連續性表現測驗基因知覺偏差量表schizotypal personalityneuregulin 1SPQCPTsustained attentiongenesPASNRG1MALDI-TOFthesishttp://ntur.lib.ntu.edu.tw/bitstream/246246/56232/1/ntu-93-R91842015-1.pdf