NTR1和PPP1R1B基因多态性与精神分裂症认知功能损害的关联研究
发布时间：2018-10-16 11:04
【摘要】：目的：探讨NTR.1基因和PPP1R1B基因多态性与精神分裂症患者的词语记忆、视觉空间记忆、执行功能、信息处理速度、心理运动速度、注意力和知觉转换能力之间的关联性。 方法：108例精神分裂症首发未用药患者及129例中国汉族健康人分别进行神经认知功能的检测,包括霍普金斯词语学习测验(HVLT-R)、简短视觉空间记忆测验(BVMT-R)、威斯康星卡片分类测验(WCST)、空间广度测验、连线测验A (TMT-A)和Stroop色词测验；临床症状评估采用阳性与阴性症状量(PANSS)。全体受试者采静脉血进行NTR1基因(rs2427422、rs6090453、rs6011914)和PPP1R1B基因(rs3764352、rs879606、rs12601930)单核苷酸多态性(SNP)分析。 结果： 1.精神分裂症患者及健康人群的NTR1基因rs2427422A/G. rs6090453C/G和rs6011914C/G位点及PPP1R1B基因rs3764352A/G、 rs879606A/G位点多态性的基因型分布均未偏离Hardy-Weinberg遗传平衡(P均0.05)。而两组的PPP1R1B基因rs12601930C/T位点的基因型分布偏离了Hardy-Weinberg遗传平衡(P0.001,P=0.004)。与NCBI的SNPs数据库中的中国汉族人群相比,rs12601930C/T位点的基因型分布无显著差异(χ2=4.425、4.301,P=0.109、0.116)。NTR1基因rs2427422、rs6090453、rs6011914位点和PPPIRIB基因rs3764352、rs879606和rs12601930位点基因型频率的分布在病例组和健康组间差异均无显著性。 2.病例组的HVLT-R,空间广度测试、Stroop任务测试及连线测试的全部指标、BVMT-R的回忆总数和延迟回忆、WCST的PR、NPE得分均显著差于健康组(p0.05)。 3.以PANSS总分、病程、年龄、受教育年限和性别作为协变量对精神分裂症患者进行分析：BVMT-R再认得分,PPPIRIB rs3764352的GG基因型显著高于AA基因型,PPPIRIB rs879606的GG基因型显著高于AA和AG基因型,PPPIRIB rs12601930的TT基因型显著高于CC基因型；TMT-A成绩,PPPIRIB rs3764352的AA基因型显著优于GG基因型,PPPIRIB rs879606的GG基因型成绩显著优于AA基因型,PPPIRIB rs12601930的TT基因型优于CC基因型。 4.以年龄、受教育年限和性别作为协变量,对健康对照进行分析：TMT-A成绩,NTR1rs2427422的AA基因型显著差于GG和AG基因型,NTR1rs6090453的CC基因型显著差于GG和CG基因型,PPPIRIB rs3764352的AA基因型显著差于GG基因型,PPPIRIB rs879606的AA基因型显著差于GG基因型；Stroop任务测试单词数,PPPIRIB rs879606的AA基因型显著高于GG基因型；空间广度测试总分,PPPIRIB rs12601930的CC基因型显著高于TT基因型。 结论： 1.与健康对照相比,精神分裂症患者存在广泛的认知功能损害。 2.精神分裂症患者PPPIRIB基因多态性影响其视觉空间记忆和心理运动速度。 3.健康受试者NTR1基因多态性影响其心理运动速度；PPP1R1B基因多态性影响其心理运动速度、知觉转换和信息处理速度。
[Abstract]:Objective: to investigate the relationship between polymorphism of NTR.1 gene and PPP1R1B gene and word memory, visual spatial memory, executive function, information processing speed, mental motor speed, attention and perceptual conversion ability in schizophrenic patients. Methods: the neurocognitive function was measured in 108 patients with schizophrenia and 129 healthy controls. It includes the Hopkins word learning test (HVLT-R), the brief visual spatial memory test (BVMT-R), the Wisconsin card sorting test (WCST), spatial span test, the wired test A (TMT-A) and the Stroop color word test; and the clinical symptoms are assessed with positive and negative symptom volumes (PANSS). The single nucleotide polymorphisms (SNP) of NTR1 gene (rs2427422,rs6090453,rs6011914) and PPP1R1B gene (rs3764352,rs879606,rs12601930) were analyzed. Results: 1. The genotypic distribution of NTR1 gene rs2427422A/G. rs6090453C/G and rs6011914C/G loci and PPP1R1B gene rs3764352A/G, rs879606A/G loci in schizophrenic patients and healthy people did not deviate from Hardy-Weinberg genetic balance (P0. 05). The genotype distribution of rs12601930C/T locus of PPP1R1B gene in the two groups deviated from the Hardy-Weinberg genetic balance (P0.001, P0. 004). The genotype distribution of rs12601930C/T locus was not significantly different from that of Chinese Han population in SNPs database of NCBI (蠂 ~ 2 = 4.425, 4.301). The genotype frequencies of rs2427422,rs6090453,rs6011914 locus of NTR1 gene and rs3764352,rs879606 and rs12601930 locus of PPPIRIB gene were not significantly different between case group and healthy group. The scores of HVLT-R, spatial span test, Stroop task test and wired test, total recall of BVMT-R and delayed recall, PR,NPE score of WCST were significantly lower than those of healthy group (p0.05). Total score of PANSS, course of disease, age, Years of education and sex were used as covariables to analyze schizophrenic patients: BVMT-R recognition score, GG genotype of PPPIRIB rs3764352 was significantly higher than that of AA genotype, GG genotype of PPPIRIB rs879606 was significantly higher than that of AA and AG genotype, TT genotype of PPPIRIB rs12601930 was significantly higher than that of AA genotype. It was significantly higher than CC genotype. The TMT-A score of PPPIRIB rs3764352 genotype was significantly better than that of GG genotype, that of PPPIRIB rs879606 genotype of GG genotype was significantly better than that of AA genotype, and that of PPPIRIB rs12601930 genotype of TT genotype was better than that of CC genotype. 4. Age, length of schooling and sex are covariables, The results of TMT-A analysis showed that the AA genotype of NTR1rs2427422 was worse than that of GG and AG genotype, the CC genotype of NTR1rs6090453 was worse than that of GG and CG genotype, the AA genotype of PPPIRIB rs3764352 genotype was worse than GG genotype, and the AA genotype of PPPIRIB rs879606 genotype was worse than that of GG genotype. The AA genotype of PPPIRIB rs879606 was significantly higher than that of GG genotype in Stroop task test, and the CC genotype of PPPIRIB rs12601930 was significantly higher than that of TT genotype in the total score of spatial span test. Conclusion: 1. Compared with healthy controls, schizophrenia patients have extensive cognitive impairment. 2. 2. The polymorphism of PPPIRIB gene affects visual spatial memory and psychomotor speed in schizophrenic patients. 3. 3. The polymorphism of NTR1 gene affected the mental motor speed of healthy subjects, while the polymorphism of PPP1R1B gene affected the speed of mental movement, perception conversion and information processing.
【学位授予单位】：中南大学
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R749.3
本文编号：2274167
[Abstract]:Objective: to investigate the relationship between polymorphism of NTR.1 gene and PPP1R1B gene and word memory, visual spatial memory, executive function, information processing speed, mental motor speed, attention and perceptual conversion ability in schizophrenic patients. Methods: the neurocognitive function was measured in 108 patients with schizophrenia and 129 healthy controls. It includes the Hopkins word learning test (HVLT-R), the brief visual spatial memory test (BVMT-R), the Wisconsin card sorting test (WCST), spatial span test, the wired test A (TMT-A) and the Stroop color word test; and the clinical symptoms are assessed with positive and negative symptom volumes (PANSS). The single nucleotide polymorphisms (SNP) of NTR1 gene (rs2427422,rs6090453,rs6011914) and PPP1R1B gene (rs3764352,rs879606,rs12601930) were analyzed. Results: 1. The genotypic distribution of NTR1 gene rs2427422A/G. rs6090453C/G and rs6011914C/G loci and PPP1R1B gene rs3764352A/G, rs879606A/G loci in schizophrenic patients and healthy people did not deviate from Hardy-Weinberg genetic balance (P0. 05). The genotype distribution of rs12601930C/T locus of PPP1R1B gene in the two groups deviated from the Hardy-Weinberg genetic balance (P0.001, P0. 004). The genotype distribution of rs12601930C/T locus was not significantly different from that of Chinese Han population in SNPs database of NCBI (蠂 ~ 2 = 4.425, 4.301). The genotype frequencies of rs2427422,rs6090453,rs6011914 locus of NTR1 gene and rs3764352,rs879606 and rs12601930 locus of PPPIRIB gene were not significantly different between case group and healthy group. The scores of HVLT-R, spatial span test, Stroop task test and wired test, total recall of BVMT-R and delayed recall, PR,NPE score of WCST were significantly lower than those of healthy group (p0.05). Total score of PANSS, course of disease, age, Years of education and sex were used as covariables to analyze schizophrenic patients: BVMT-R recognition score, GG genotype of PPPIRIB rs3764352 was significantly higher than that of AA genotype, GG genotype of PPPIRIB rs879606 was significantly higher than that of AA and AG genotype, TT genotype of PPPIRIB rs12601930 was significantly higher than that of AA genotype. It was significantly higher than CC genotype. The TMT-A score of PPPIRIB rs3764352 genotype was significantly better than that of GG genotype, that of PPPIRIB rs879606 genotype of GG genotype was significantly better than that of AA genotype, and that of PPPIRIB rs12601930 genotype of TT genotype was better than that of CC genotype. 4. Age, length of schooling and sex are covariables, The results of TMT-A analysis showed that the AA genotype of NTR1rs2427422 was worse than that of GG and AG genotype, the CC genotype of NTR1rs6090453 was worse than that of GG and CG genotype, the AA genotype of PPPIRIB rs3764352 genotype was worse than GG genotype, and the AA genotype of PPPIRIB rs879606 genotype was worse than that of GG genotype. The AA genotype of PPPIRIB rs879606 was significantly higher than that of GG genotype in Stroop task test, and the CC genotype of PPPIRIB rs12601930 was significantly higher than that of TT genotype in the total score of spatial span test. Conclusion: 1. Compared with healthy controls, schizophrenia patients have extensive cognitive impairment. 2. 2. The polymorphism of PPPIRIB gene affects visual spatial memory and psychomotor speed in schizophrenic patients. 3. 3. The polymorphism of NTR1 gene affected the mental motor speed of healthy subjects, while the polymorphism of PPP1R1B gene affected the speed of mental movement, perception conversion and information processing.
【学位授予单位】：中南大学
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R749.3
【参考文献】
相关期刊论文 前1条
1 赵靖平,杨德森;精神分裂症认知功能的研究进展[J];中华精神科杂志;1998年01期
，本文编号：2274167
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