肝气郁结证、肝火上炎证与5-HTT、TPH基因多态性相关研究

目的:探讨肝气郁结证、肝火上炎证与五羟色胺转运体(5-HTT)、色氨酸羟化酶(TPH)基因三种多态性的相关性.方法:运用多聚酶链式反应技术(PCR)检测50例肝气郁结证、50例肝火上炎证患者与90例健康对照者三种基因多态性的分布频率.结果:肝火上炎证患者5-HTT启动子区多态性(5-HTTLPR)的SS(short/short)基因型和S(short)等位基因频率分别为72%和85%,健康对照者SS基因型和S等位基因频率分别为49%和71%,两组之间比较差异有显著性(P＜0.05).肝气郁结证患者5-HTTLPR的SS基因型和S等位基因频率分别为58%和74%,与健康组比较差异无显著性.5-HTT内含子2可变数串联重复序列(VNTR)多态性和TPH基因A218C多态性各基因型和等位基因频率在肝气郁结证、肝火上炎证患者组与健康人组中均差异无显著性(P＞0.05).结论:5-HTTLPR多态性SS型个体可能是肝火上炎证的易感人群.

Association Study for Serotonin Transporter and Tryptophan Hydroxylase Gene Polymorphisms and Hepatic Depression Syndrome and Hyperpyrexia of Liver Syndrome Disorder

Objective:To explore the relationship between the hepatic depression syndrome and hyperpyrexia of liver syndrome disorder and polymorphisms in the serotonin transporter (5 HTT) and tryptophan hydroxylase(TPH).Methods:Using a polymerase chain reaction based technique,the frequencies of 5 HTTLPR,5 HTT intron2 VNTR,and TPH intron7 A218C polymorphisms were determined in patient groups and control subjects.Genotype and allele frequency comparisons between patient groups and control subjects were carried out with chi square tests or Fisher's exact tests.Results:The frequencies of 5 HTTLPR short/shor(SS) genotype were significantly higher in patients with hyperpyrexia of liver syndrome than in control subjects(72% vs 49%, P =0 026),and the S allele frequencies were significantly higher in patients with hyperpyrexia of liver syndrome than in control subjects(85% vs 71%, P =0 009).However,there were no differences for the distribution of 5 HTTLPR between patients with deficiency of hepatic Qi syndrome and controls.No significant differences for the genotype distribution or the allele frequency of 5 HTT intron2 VNTR and TPH intron7 A218C,polymorphisms were revealed when comparing controls and all patient groups.Conclusion:This finding support the presence of 5 HTTLPR SS genotype may increase the risk of hyperpyrexia of liver syndrome.