目的:5-HT1A基因C-1019G多态性与多种神经精神疾病如抑郁症、精神分裂症、焦虑症等的发生风险、症状严重程度及治疗效果存在关联。本研究旨在建立一种直接巢式PCR结合测序检测该位点的方法。方法:以口腔上皮细胞粗处理物为材料,通过直...目的:5-HT1A基因C-1019G多态性与多种神经精神疾病如抑郁症、精神分裂症、焦虑症等的发生风险、症状严重程度及治疗效果存在关联。本研究旨在建立一种直接巢式PCR结合测序检测该位点的方法。方法:以口腔上皮细胞粗处理物为材料,通过直接巢式PCR扩增包含5-HT1A基因C-1019G位点的靶片段,PCR产物经桑格测序鉴定基因型。结果:所检样本均能扩增出预期大小的PCR产物,测序峰图清晰。结论:成功建立了一种直接巢式PCR结合测序鉴定5-HT1A基因型的方法,有良好的应用前景。Objective: The C-1019G polymorphism of the 5-HT1A gene has been associated with the risk of occurrence, symptom severity, and treatment outcome of a variety of neuropsychiatric disorders, such as depression, schizophrenia, and anxiety disorders. The aim of this study was to establish a direct nested PCR combined with sequencing to detect this locus. Methods: The target fragment containing the C-1019G locus of the 5-HT1A gene was amplified by direct nested PCR using crude processed oral epithelial cells, and the PCR product was genotyped by Sanger sequencing. Results: PCR products of expected size were amplified from all the samples tested, and the sequencing peaks were clear. Conclusion: A direct nested PCR combined with sequencing method was successfully established to identify the genotypes of 5-HT1A gene, which has good prospects for application.展开更多
5-HT1A基因编码5-羟色胺(血清素)的G蛋白偶联受体(属于5-羟色胺受体亚家族)。C-1019G多态位点是5-HT1A基因启动子区一个重要的功能性多态位点,人群中存在3种基因型即CC、CG、GG,它与个体的恋爱关系及抑郁症、焦虑症等精神疾病密切相关...5-HT1A基因编码5-羟色胺(血清素)的G蛋白偶联受体(属于5-羟色胺受体亚家族)。C-1019G多态位点是5-HT1A基因启动子区一个重要的功能性多态位点,人群中存在3种基因型即CC、CG、GG,它与个体的恋爱关系及抑郁症、焦虑症等精神疾病密切相关。本文对5-HT1A基因C-1019G多态位点的相关机制、检测方法、研究进展等进行综述。The 5-HT1A gene encodes a G protein-coupled receptor for serotonin, which belongs to the 5-hydroxytryptamine receptor subfamily. C-1019G polymorphism is an important functional poly-morphism in the promoter region of 5-HT1A gene. There are three genotypes (CC, CG and GG) in the population, which are closely related to individual’s romantic relationship and mental disorders such as depression and anxiety. In this paper, the mechanism, detection methods and research progress of C-1019G polymorphism of 5-HT1A gene were reviewed.展开更多
BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify th...BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify the impact of genetic variation on MDD treatment outcomes.METHODS Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines,a systematic search across PubMed,EMBASE,Web of Science,and the Cochrane Library was conducted without date restrictions,utilizing key terms related to MDD,serotonin 1A receptor polymorphism(5-HTR1A),C-1019G polymorphism,and antidepressant response.Studies meeting inclusion criteria were thoroughly screened,and quality assessed using the Newcastle-Ottawa Scale.Statistical analyses,includingχ2 and I²values,were used to evaluate heterogeneity and fixed-effect or random-effect models were applied accordingly.RESULTS The initial search yielded 1216 articles,with 11 studies meeting criteria for inclusion.Analysis of various genetic models showed no significant association between the 5-HTR1A C-1019G polymorphism and antidepressant efficacy.The heterogeneity was low to moderate,and no publication bias was detected through funnel plot symmetry and Egger's and Begg's tests.CONCLUSION This meta-analysis does not support a significant association between the 5-HTR1A C-1019G polymorphism and the efficacy of antidepressant treatment in MDD.The findings call for further research with larger cohorts to substantiate these results and enhance the understanding of antidepressant pharmacogenetics.展开更多
文摘目的:5-HT1A基因C-1019G多态性与多种神经精神疾病如抑郁症、精神分裂症、焦虑症等的发生风险、症状严重程度及治疗效果存在关联。本研究旨在建立一种直接巢式PCR结合测序检测该位点的方法。方法:以口腔上皮细胞粗处理物为材料,通过直接巢式PCR扩增包含5-HT1A基因C-1019G位点的靶片段,PCR产物经桑格测序鉴定基因型。结果:所检样本均能扩增出预期大小的PCR产物,测序峰图清晰。结论:成功建立了一种直接巢式PCR结合测序鉴定5-HT1A基因型的方法,有良好的应用前景。Objective: The C-1019G polymorphism of the 5-HT1A gene has been associated with the risk of occurrence, symptom severity, and treatment outcome of a variety of neuropsychiatric disorders, such as depression, schizophrenia, and anxiety disorders. The aim of this study was to establish a direct nested PCR combined with sequencing to detect this locus. Methods: The target fragment containing the C-1019G locus of the 5-HT1A gene was amplified by direct nested PCR using crude processed oral epithelial cells, and the PCR product was genotyped by Sanger sequencing. Results: PCR products of expected size were amplified from all the samples tested, and the sequencing peaks were clear. Conclusion: A direct nested PCR combined with sequencing method was successfully established to identify the genotypes of 5-HT1A gene, which has good prospects for application.
文摘5-HT1A基因编码5-羟色胺(血清素)的G蛋白偶联受体(属于5-羟色胺受体亚家族)。C-1019G多态位点是5-HT1A基因启动子区一个重要的功能性多态位点,人群中存在3种基因型即CC、CG、GG,它与个体的恋爱关系及抑郁症、焦虑症等精神疾病密切相关。本文对5-HT1A基因C-1019G多态位点的相关机制、检测方法、研究进展等进行综述。The 5-HT1A gene encodes a G protein-coupled receptor for serotonin, which belongs to the 5-hydroxytryptamine receptor subfamily. C-1019G polymorphism is an important functional poly-morphism in the promoter region of 5-HT1A gene. There are three genotypes (CC, CG and GG) in the population, which are closely related to individual’s romantic relationship and mental disorders such as depression and anxiety. In this paper, the mechanism, detection methods and research progress of C-1019G polymorphism of 5-HT1A gene were reviewed.
文摘BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify the impact of genetic variation on MDD treatment outcomes.METHODS Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines,a systematic search across PubMed,EMBASE,Web of Science,and the Cochrane Library was conducted without date restrictions,utilizing key terms related to MDD,serotonin 1A receptor polymorphism(5-HTR1A),C-1019G polymorphism,and antidepressant response.Studies meeting inclusion criteria were thoroughly screened,and quality assessed using the Newcastle-Ottawa Scale.Statistical analyses,includingχ2 and I²values,were used to evaluate heterogeneity and fixed-effect or random-effect models were applied accordingly.RESULTS The initial search yielded 1216 articles,with 11 studies meeting criteria for inclusion.Analysis of various genetic models showed no significant association between the 5-HTR1A C-1019G polymorphism and antidepressant efficacy.The heterogeneity was low to moderate,and no publication bias was detected through funnel plot symmetry and Egger's and Begg's tests.CONCLUSION This meta-analysis does not support a significant association between the 5-HTR1A C-1019G polymorphism and the efficacy of antidepressant treatment in MDD.The findings call for further research with larger cohorts to substantiate these results and enhance the understanding of antidepressant pharmacogenetics.
