内皮素受体A基因多态性与中青年原发性高血压的相关性研究

Association between endothelin receptor type a gene polymorphism and essential hypertension in young and middle aged population

目的:探讨陕西地区汉族中青年人群中内皮素受体A(EDNRA)单核苷酸基因多态性(SNP)与原发性高血压易感性的关系。方法:选择2015年1月至2018年1月,在本院治疗的338例中青年(18～45岁)原发性高血压(EH)患者作为EH组,另外选择300例中青年健康志愿者作为对照组。采用聚合酶链反应联合DNA直接测序法检测EDNRA基因rs1801708和rs5335位点多态性。结果:EH组和对照组比较,两组rs5335位点等位基因分布频率,差异具有统计学意义(P<0.05),rs1801708位点基因型和等位基因分布频率,差异均无统计学意义(均P>0.05)。按BMI值分层,在BMI<25 kg/m^2中青年人群中,EH组rs5335位点基因型/等位基因分布频率在共显性基因模型、隐性基因模型和等位基因模型下与对照组比较,差异均具有统计学意义(均P<0.05),两组rs1801708位点基因型/等位基因分布频率在各种基因模型下,差异均无统计学意义(均P>0.05);在BMI≥25 kg/m^2中青年人群中,两组比较rs5335和rs1801708位点基因型/等位基因分布频率在各种基因模型下,差异均无统计学意义(均P>0.05)。多因素分析结果显示,携带EDNRA基因rs5335位点C等位基因可降低BMI<25 kg/m^2中青年人群EH的发生风险(OR=0.484, 95%CI:0.361～0.836,P=0.007)。结论:EDNRA基因rs5335位点多态性与陕西地区汉族中青年人群EH发生相关。

Objective: To investigate the genetic association between endothelin receptor type A(EDNRA) gene polymorphism and essential hypertension(EH) in young and middle aged population in the Han descent population in Shaanxi province. Methods: 338 EH patients from January 2015 to January 20118 were recruited to participate in the study. And 300 healthy volunteers without EH were chosen as control group. Genotype was determined by polymerase chain reaction combined with DNA direct sequencing technique for the polymorphism of rs1801708 and rs5335 in the EDNRA gene. Results: There was significant difference in allele frequencies of EDNRA gene rs5335 between EH group and control group(P<0.05). However, there was no significant difference in genotype and allele frequencies of rs1801708 between two groups(both P>0.05). Stratified by BMI, for young and middle aged population with BMI<25 kg/m^2, EDNRA gene rs5335 has significant associations with the risk of EH under co-dominant gene model, recessive gene model and allele model(all P<0.05). For young and middle aged population with BMI≥25 kg/m^2, rs5335 and rs1801708 gene polymorphism has no association with the risk of EH under all gene model. Multivariate Logistic regression analysis showed that allele C was protective factor of EH for young and middle aged population with BMI<25 kg/m^2(OR=0.484, 95%CI: 0.361-0.836, P=0.007). Conclusions: EDNRA gene rs5335 polymorphism may closely related to EH for young and middle aged population in the Han descent population in Shaanxi province.