目的探讨慢传输型便秘(STC)与5-羟色胺转运体基因启动子区(5-HTTLPR)多态性的相关性。方法采用聚合酶链反应技术检测54例STC患者(STC组)和100例正常对照者5-羟色胺转运体基因启动子区多态性的分布频率。结果SIC组5-羟色胺转运体基因启...目的探讨慢传输型便秘(STC)与5-羟色胺转运体基因启动子区(5-HTTLPR)多态性的相关性。方法采用聚合酶链反应技术检测54例STC患者(STC组)和100例正常对照者5-羟色胺转运体基因启动子区多态性的分布频率。结果SIC组5-羟色胺转运体基因启动子区S/S基因型和S等位基因频率分别为72．2%、83．3%。对照组S/S基因型和S等位基因频率分别为50．0%、72．5%,两组间的差异有统计学意义(P＜0．05)。STC组按性别、发病年龄(小于45岁和等于或超过45岁)分组后,比较5-HTTLPR基因多态性差异无统计学意义,但按结肠运输试验72 h后排出标志物是否达到40%分组后,未达到40%组S/S基因型频率明显高于达到组(71．7% vs 42．6%),差异有统计学意义(P＜0．05)。结论5-HTTLPR的S/S型可能参与了慢传输型便秘的发病机制。展开更多
We evaluated the genotypes of the serotonin transporter gene （5-HTT） in patients with premature ejaculation （PE） to determine the role of genetic factors in the etiopathogenesis of PE and possibly to identify the ...We evaluated the genotypes of the serotonin transporter gene （5-HTT） in patients with premature ejaculation （PE） to determine the role of genetic factors in the etiopathogenesis of PE and possibly to identify the patient subgroups. A total of 70 PE patients and 70 controls were included in this study. All men were heterosexual, had no other disorders and were either married or in a stable relationship. PE was defined as ejaculation that occurred within 1 min of vaginal intromission. Genomic DNA from patients and controls was analyzed using polymerase chain reaction, and allelic variations of the promoter region of the serotonin transporter gene （5-HTTLPR） were determined. The 5-HTTLPR （serotonin transporter promoter gene） genotypes in PE patients vs. controls were distributed as follows： L/L 16% vs. 17%, L/S 30% vs. 53% and S/S 54% vs. 28%. We examined the haplotype analysis for three polymorphisms of the 5-HTTLPR gene： LL, LS and SS. The appropriateness of the allele frequencies in the 5-HTTLPR gene was analyzed by the Hardy-Weinberg equilibrium using the Z-test. The short （S） allele of the 5-HTTLPR gene was significantly more frequent in PE patients than in controls （P 〈 0.05）. We suggest that the 5-HTTLPR gene plays a role in the pathophysiology of all primary PE cases. Further studies are needed to evaluate the relationship between 5-HTTLPR gene polymorphism and patient subgroup （such as primary and secondary PE） responses to selective serotonin reuptake inhibitors as well as ethnic differences.展开更多
目的研究5-羟色胺受体基因启动子区(5-HTTLPR)多态性与功能性消化不良(FD)发病之间的关系,为疾病提供临床治疗信息。方法计算机检索PubMed、EMbase、Web of Science、中国生物医学文献数据库、CNKI、万方等数据库,检索截止时间至2018年5...目的研究5-羟色胺受体基因启动子区(5-HTTLPR)多态性与功能性消化不良(FD)发病之间的关系,为疾病提供临床治疗信息。方法计算机检索PubMed、EMbase、Web of Science、中国生物医学文献数据库、CNKI、万方等数据库,检索截止时间至2018年5月18日,筛选5-HTTLPR基因多态性与FD发病相关研究,运用Stata 12.0软件进行Meta分析。结果共纳入6篇研究,S(短)及L(长)等位基因组成5种遗传模型。SS+LS vs LL模型与FD发病风险相关(OR=0.50,95%CI:0.25～0.98),其余遗传模型与FD发病无关(SS vs LL+LS:OR=1.02,95%CI:0.70～1.50;SS vs LL:OR=1.01,95%CI:0.68～1.50;SS vs LS:OR=1.08,95%CI:0.70～1.68;S vs L:OR=0.96,95%CI:0.81～1.14),亚洲人群SS+LS vs LL模型与FD发病风险相关(OR=0.53,95%CI:0.29～0.97),其余模型未见明显相关,高加索人群各遗传模型与FD发病风险无关。剔除一篇文章后,无论汇总结果还是亚组分析均提示各遗传模型与FD发病风险无明显相关。结论无论在亚洲还是高加索人群中,5-HTTLPR基因多态性与FD发病风险无明显相关。展开更多
文摘目的探讨慢传输型便秘(STC)与5-羟色胺转运体基因启动子区(5-HTTLPR)多态性的相关性。方法采用聚合酶链反应技术检测54例STC患者(STC组)和100例正常对照者5-羟色胺转运体基因启动子区多态性的分布频率。结果SIC组5-羟色胺转运体基因启动子区S/S基因型和S等位基因频率分别为72．2%、83．3%。对照组S/S基因型和S等位基因频率分别为50．0%、72．5%,两组间的差异有统计学意义(P＜0．05)。STC组按性别、发病年龄(小于45岁和等于或超过45岁)分组后,比较5-HTTLPR基因多态性差异无统计学意义,但按结肠运输试验72 h后排出标志物是否达到40%分组后,未达到40%组S/S基因型频率明显高于达到组(71．7% vs 42．6%),差异有统计学意义(P＜0．05)。结论5-HTTLPR的S/S型可能参与了慢传输型便秘的发病机制。
文摘We evaluated the genotypes of the serotonin transporter gene （5-HTT） in patients with premature ejaculation （PE） to determine the role of genetic factors in the etiopathogenesis of PE and possibly to identify the patient subgroups. A total of 70 PE patients and 70 controls were included in this study. All men were heterosexual, had no other disorders and were either married or in a stable relationship. PE was defined as ejaculation that occurred within 1 min of vaginal intromission. Genomic DNA from patients and controls was analyzed using polymerase chain reaction, and allelic variations of the promoter region of the serotonin transporter gene （5-HTTLPR） were determined. The 5-HTTLPR （serotonin transporter promoter gene） genotypes in PE patients vs. controls were distributed as follows： L/L 16% vs. 17%, L/S 30% vs. 53% and S/S 54% vs. 28%. We examined the haplotype analysis for three polymorphisms of the 5-HTTLPR gene： LL, LS and SS. The appropriateness of the allele frequencies in the 5-HTTLPR gene was analyzed by the Hardy-Weinberg equilibrium using the Z-test. The short （S） allele of the 5-HTTLPR gene was significantly more frequent in PE patients than in controls （P 〈 0.05）. We suggest that the 5-HTTLPR gene plays a role in the pathophysiology of all primary PE cases. Further studies are needed to evaluate the relationship between 5-HTTLPR gene polymorphism and patient subgroup （such as primary and secondary PE） responses to selective serotonin reuptake inhibitors as well as ethnic differences.
文摘目的研究5-羟色胺受体基因启动子区(5-HTTLPR)多态性与功能性消化不良(FD)发病之间的关系,为疾病提供临床治疗信息。方法计算机检索PubMed、EMbase、Web of Science、中国生物医学文献数据库、CNKI、万方等数据库,检索截止时间至2018年5月18日,筛选5-HTTLPR基因多态性与FD发病相关研究,运用Stata 12.0软件进行Meta分析。结果共纳入6篇研究,S(短)及L(长)等位基因组成5种遗传模型。SS+LS vs LL模型与FD发病风险相关(OR=0.50,95%CI:0.25～0.98),其余遗传模型与FD发病无关(SS vs LL+LS:OR=1.02,95%CI:0.70～1.50;SS vs LL:OR=1.01,95%CI:0.68～1.50;SS vs LS:OR=1.08,95%CI:0.70～1.68;S vs L:OR=0.96,95%CI:0.81～1.14),亚洲人群SS+LS vs LL模型与FD发病风险相关(OR=0.53,95%CI:0.29～0.97),其余模型未见明显相关,高加索人群各遗传模型与FD发病风险无关。剔除一篇文章后,无论汇总结果还是亚组分析均提示各遗传模型与FD发病风险无明显相关。结论无论在亚洲还是高加索人群中,5-HTTLPR基因多态性与FD发病风险无明显相关。
