摘要目的 研究中国北方汉族人群色氨酸羟化酶(TPH)基因A218C、5-羟色胺转运体(5-HTT)基因内含子2可变数目串联重复(VNTB)序列和启动子连锁多态区(LPR)缺失/插入多态性与原发性高血压(EH)的关系.方法 采用聚合酶链反应-限制性片段长度多态性技术,检测280例EH患者和200例正常血压对照者TPH基因A218C、5-HTTVNTR和5-HTTLPR多态性位点的基因型和等位基因分布.结果 TPH基因A218C和5-HTTVNTR多态基因型及等位基因频率在EH组和对照组间的分布差异均无统计学意义(均P>0.05).5-HTTLPR多态的SS、LS及LL基因型在EH组分布频率为68%,29%,3%,在对照组分别为53%,37%和10%(P<0.01);S、L等位基因在EH组分布频率为82%和18%,在对照组分别为72%和28%(P<0.01).与L等位基因携带者(LS+LL)相比,SS纯合子EH患病风险显著增加(OR=1.90,95%CI为1.31～2.77,P=0.001).logistic回归分析校正年龄、性别、体质指数、血脂、空腹血糖及血尿酸水平,5-HTTLPR多态SS基因型仍与EH发病危险显著相关(DR=1.47,95%CI为1.06～2.04,P=0.021).结论 5-HTTLPR的SS基因型可能与中国北方汉族人群EH的发生相关联,而TPH基因A218C和5-HTTVNTR基因多态性在中国北方汉族人群EH的发生不起主要作用.

abstractsObjective To investigate the relationship between trytophan hydroxylase (TPH) gene A218C in intren 7 and 5-hydroxytryptamine transporter (5-HTT) gene variable number tandem repeat (VNTR) in intron 2 and gene-linked polymorphic region (LPR) deletion/iusertion polymorphism and essential hypertension (EH) in Chinese northern Han population.Methods A total of 280 EH patients and 200 normoteusive controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism technique.Results There were no significant differences in the frequencies of the genotypes and alleles of TPH gene A218C and 5-HTTVNTR between EH patents and controls (all P > 0.05).The genotype frequencies of SS,LS and LL in the 5-HTTLPR polymorphism was 68%,29% and 3% in EH patients,53% ,37% and 10% in the controls respectively (P <0.01).The frequencies of allele S and L of the 5-HTTLPR were 82% and 18% in EH patients,72% and 28% in the controls respectively (P < 0.01).Compared with the carriers of L allele (LS + LL),the EH risk was significantly higher in the SS hmnozygote (OR = 1.90,95 % CI = 1.31 - 2.77,P = 0.001).After adjustment of age,gender,body mass index,blood lipids,fasting blood glucose and blood uric acid level,the binary logistic regression analysis demonstrated that SS genotype in the 5-HTTLPR polymorphism was significantly related to occurrence of EH (OR = 1.47,95%CI=1.06-2.04,P=0.021).Conclusions The SS genotype Of the 5-HTTLPR might be a susceptible gene to EH,while the TPH gene A218C and 5-HTrVNTR polymorphism is not associated with EH in Chinese northern Han population.