Serotonin （5-hydroxytryptamine, 5-HT） influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter （5-HTT） is th...Serotonin （5-hydroxytryptamine, 5-HT） influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter （5-HTT） is the most important factor in serotonin inactivation. We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population. We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked poLymorphic region （5-H-I-FLPR） in patients with non-lesional temporal lobe epilepsy and normal controls （P〉 0.05）. Frequencies of the 5-H1-1- intron 2 variable number tandem repeat （5-HTTVNTR） 12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls （P 〈 0.01）. The odds ratio of affecting non-lesional temporal lobe epilepsy was 1.435 （95% Cl, 1.096 1.880） in patients carrying allele 12 （P 〈 0.05）. Although the 5-HTTLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Hart population, allele 12 in the 5-HTTVNTR may correlate with non-lesional temporal lobe epilepsy. The Stin2.12 allele and 12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.展开更多
BACKGROUND： Serotonin transporter （5-HTT） polymorphisms comprise 5-HTT gene-linked polymorphism region （5-HTTLPR） and variable number of tandem repeats （VNTR）. Studies have revealed an association between 5-HTT...BACKGROUND： Serotonin transporter （5-HTT） polymorphisms comprise 5-HTT gene-linked polymorphism region （5-HTTLPR） and variable number of tandem repeats （VNTR）. Studies have revealed an association between 5-HTT polymorphism and major depressive disorder, which suggests that the ＂S＂ allele of 5-HTTLPR and Stin2.9 of 5-HTTVNTR are associated with major depressive disorder. However, there are a number of studies that do not support the 5-HTT polymorphism effect in major depressive disorder. OBJECTIVE： To study the relationship between 5-HTT gene polymorphism and major depressive disorder in Chinese Han population. DESIGN, TIME AND SETTING： Case-controlled study of 5-HTT gene polymorphism. The experiment was performed at the Central Laboratory, Third Affiliated Hospital of Sun Yat-sen University, China from March 2005 to January 2006. PARTICIPANTS： A total of 99 depressive patients of Chinese Han nationality were recruited for this study. All patients met DSM-IV diagnostic criteria for major depressive disorder and had a total score of Hamilton Depression Scale （24 items） ≥21 points. In addition, 101 healthy subjects, matched for age and gender, served as the control group. METHODS： Venous blood was collected from all subjects. 5-HTT genotypes and alleles were determined by polymerase chain reaction. Consistent with the Hardy-Weinberg equilibrium, the association between 5-HTT gene polymorphism and major depressive disorder were analyzed by Chi-square test. MAIN OUTCOME MEASURES： 5-HTTLPR and 5-HTTVNTR genotypes and allele frequencies were measured. RESULTS： No significant differences in 5-HTTLPR genotypes and allele frequencies were determined between patients and controls （P 〉 0.05）. However, significant differences in 5-HTTVNTR genotypes and allele frequencies were detected （P 〈 0.01 ）. The Stin2.10 allele and 10/10 genotype associated with major depressive disorder （OR = 2.61,7.7, P 〈 0.05; analysis of dose-response relationships Х^2 = 12.35, P 〈 0.01）. CONCLUSION： Results from the present study revealed no association between 5-HTTLPR and major depressive disorder. However, a significant association between 5-HTTVNTR and major depressive disorder existed in a population of Chinese Han. The presence of Stin2.10 and 10/10 genotypes increased the risk for major depressive disorder in a dose-dependent manner.展开更多
目的探讨加味酸枣仁汤对高中生失眠症的疗效以及5-羟色胺转运体启动子区域(serotonin transporter-linked promoter region,5-HTTLPR)基因多态性与疗效的关系。方法收集失眠症高中生对照组50例和加味酸枣仁汤组47例。对照组仅调整作息时...目的探讨加味酸枣仁汤对高中生失眠症的疗效以及5-羟色胺转运体启动子区域(serotonin transporter-linked promoter region,5-HTTLPR)基因多态性与疗效的关系。方法收集失眠症高中生对照组50例和加味酸枣仁汤组47例。对照组仅调整作息时间,加味酸枣仁汤组同时给予加味酸枣仁汤1周。测定治疗前后匹兹堡睡眠质量指数(PSQI),用配对t检验比较差异。采集血液,测定5-HTTLPR基因型,用χ~2检验分析与疗效的关系。结果加味酸枣仁汤治疗后,显著降低主观睡眠质量(2.17±0.38 vs. 0.77±0.48)、入睡时间(2.11±0.37 vs. 0.68±0.52)、睡眠时间(1.43±0.50 vs. 0.89±0.37)、睡眠效率(1.51±0.51 vs. 0.87±0.40)、睡眠障碍(1.40±0.54 vs. 0.85±0.42)、日间功能障碍(1.70±0.46 vs. 0.89±0.37)以及总分(10.32±1.07 vs. 4.96±0.95),均P<0.001;该组治疗有效率72.34%(34/47)明显高于对照组6.00%(3/50),差异有统计学意义(P<0.001);显效、有效患者LL基因型频率和L等位基因频率均高于无效者(P=0.007和P<0.001)。结论加味酸枣仁汤对高中生失眠症有疗效,并受5-HTTLPR基因型影响。展开更多
目的探讨5-羟色胺转运体基因启动子区（the serotonin transporter linked polymorphic region，5-HTTLPR）44bp数目可变串联重复序列（variable number of tandem repeat，VNTR）多态性与中国汉族人群Tourette综合征（Tourette syndrom...目的探讨5-羟色胺转运体基因启动子区（the serotonin transporter linked polymorphic region，5-HTTLPR）44bp数目可变串联重复序列（variable number of tandem repeat，VNTR）多态性与中国汉族人群Tourette综合征（Tourette syndrome，TS）发病的关联性。方法应用聚合酶链反应-基因分型方法对来自中国汉族人群的252个TS核心家系的5-HTTLPR44bpVNTR多态性进行检测，用传递不平衡检验（transmission disequilibrium test，TDT）和单倍型相对风险分析（haplotype relative risk，HRR）方法分析该多态性位点的遗传分布与TS的关系，应用基于单倍型的单倍型相对风险分析（haplotype—based HRR，HHRR）进行验证。结果对252个TS核心家系的5-HTTLPR 44 bpVNTR基因频率分布进行TDT、HRR和HHRR分析，发现5-HTTLPR44bpVNTR与TS之间存在关联，且存在等位基因L的过度传递（TDT：x2=6．680，dr=1，P=0．012；HRR：x2=9．345，P=0．002，OR=1.739，95％CI为1．218～2．483）。分别对204例男性和48例女性的核心家系与TS的关系进行分析，发现5-HTTLPR与男性TS之间存在关联，与女性TS无明显关联（男性TDT：x2=4．643，df=1，P=0．038；女性TDT：x2=2．189，df=1，P=0．188）。结论5-HTTLPR44bpVNTR多态性与中国汉族人群男性TS发病存在明显的关联，该结果提示5-HTTLPR是男性TS发病的易感基因，但仍需在不同的种族中进行验证。展开更多
文摘Serotonin （5-hydroxytryptamine, 5-HT） influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter （5-HTT） is the most important factor in serotonin inactivation. We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population. We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked poLymorphic region （5-H-I-FLPR） in patients with non-lesional temporal lobe epilepsy and normal controls （P〉 0.05）. Frequencies of the 5-H1-1- intron 2 variable number tandem repeat （5-HTTVNTR） 12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls （P 〈 0.01）. The odds ratio of affecting non-lesional temporal lobe epilepsy was 1.435 （95% Cl, 1.096 1.880） in patients carrying allele 12 （P 〈 0.05）. Although the 5-HTTLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Hart population, allele 12 in the 5-HTTVNTR may correlate with non-lesional temporal lobe epilepsy. The Stin2.12 allele and 12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.
基金a grant from the Foundation of Guangdong Province of Science and Technology,No. 2003C3380
文摘BACKGROUND： Serotonin transporter （5-HTT） polymorphisms comprise 5-HTT gene-linked polymorphism region （5-HTTLPR） and variable number of tandem repeats （VNTR）. Studies have revealed an association between 5-HTT polymorphism and major depressive disorder, which suggests that the ＂S＂ allele of 5-HTTLPR and Stin2.9 of 5-HTTVNTR are associated with major depressive disorder. However, there are a number of studies that do not support the 5-HTT polymorphism effect in major depressive disorder. OBJECTIVE： To study the relationship between 5-HTT gene polymorphism and major depressive disorder in Chinese Han population. DESIGN, TIME AND SETTING： Case-controlled study of 5-HTT gene polymorphism. The experiment was performed at the Central Laboratory, Third Affiliated Hospital of Sun Yat-sen University, China from March 2005 to January 2006. PARTICIPANTS： A total of 99 depressive patients of Chinese Han nationality were recruited for this study. All patients met DSM-IV diagnostic criteria for major depressive disorder and had a total score of Hamilton Depression Scale （24 items） ≥21 points. In addition, 101 healthy subjects, matched for age and gender, served as the control group. METHODS： Venous blood was collected from all subjects. 5-HTT genotypes and alleles were determined by polymerase chain reaction. Consistent with the Hardy-Weinberg equilibrium, the association between 5-HTT gene polymorphism and major depressive disorder were analyzed by Chi-square test. MAIN OUTCOME MEASURES： 5-HTTLPR and 5-HTTVNTR genotypes and allele frequencies were measured. RESULTS： No significant differences in 5-HTTLPR genotypes and allele frequencies were determined between patients and controls （P 〉 0.05）. However, significant differences in 5-HTTVNTR genotypes and allele frequencies were detected （P 〈 0.01 ）. The Stin2.10 allele and 10/10 genotype associated with major depressive disorder （OR = 2.61,7.7, P 〈 0.05; analysis of dose-response relationships Х^2 = 12.35, P 〈 0.01）. CONCLUSION： Results from the present study revealed no association between 5-HTTLPR and major depressive disorder. However, a significant association between 5-HTTVNTR and major depressive disorder existed in a population of Chinese Han. The presence of Stin2.10 and 10/10 genotypes increased the risk for major depressive disorder in a dose-dependent manner.
文摘目的探讨加味酸枣仁汤对高中生失眠症的疗效以及5-羟色胺转运体启动子区域(serotonin transporter-linked promoter region,5-HTTLPR)基因多态性与疗效的关系。方法收集失眠症高中生对照组50例和加味酸枣仁汤组47例。对照组仅调整作息时间,加味酸枣仁汤组同时给予加味酸枣仁汤1周。测定治疗前后匹兹堡睡眠质量指数(PSQI),用配对t检验比较差异。采集血液,测定5-HTTLPR基因型,用χ~2检验分析与疗效的关系。结果加味酸枣仁汤治疗后,显著降低主观睡眠质量(2.17±0.38 vs. 0.77±0.48)、入睡时间(2.11±0.37 vs. 0.68±0.52)、睡眠时间(1.43±0.50 vs. 0.89±0.37)、睡眠效率(1.51±0.51 vs. 0.87±0.40)、睡眠障碍(1.40±0.54 vs. 0.85±0.42)、日间功能障碍(1.70±0.46 vs. 0.89±0.37)以及总分(10.32±1.07 vs. 4.96±0.95),均P<0.001;该组治疗有效率72.34%(34/47)明显高于对照组6.00%(3/50),差异有统计学意义(P<0.001);显效、有效患者LL基因型频率和L等位基因频率均高于无效者(P=0.007和P<0.001)。结论加味酸枣仁汤对高中生失眠症有疗效,并受5-HTTLPR基因型影响。
