摘要目的:观察胃饥饿素(ghrelin)基因 Leu72Met 单核苷酸多态性(SNP)与原发性高血压(EH)易患性的关系。方法随机选取 EH 患者210例、体检健康人群220例,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测这些受试者 ghrelin 基因 Leu72Met(408C >A)位点的 SNP,放射免疫法测定所有受试者的血浆 ghrelin 水平。结果 Ghrelin 基因 Leu72Met 位点存在三种 SNP,基因型(CC、CA、AA)及等位基因(C、A)频率在 EH 组和正常对照组之间差异有统计学意义(χ2=6.054,P =0.048;χ2=5.866,P =0.015)。在EH 组中,纯和未突变型 CC 者较杂合突变型 CA 和纯合突变型 AA 者具有较低的血浆 ghrelin(t =-8.738,P =0.000;t =-5.103,P =0.000),较高的收缩压(SBP)(t =4.298,P =0.000;t =2.236,P =0.019)和较低的高密度脂蛋白胆固醇(HDL-C)(t =-11.682,P =0.000;t =-7.872,P =0.000),C 碱基携带者具有较低的血浆ghrelin(t =-16.264,P =0.000),较高的 SBP 和舒张压(DBP)(t =3.800,P =0.000;t =11.895,P =0.000),较低的 HDL-C(t =-15.332,P =0.000)和较高的低密度脂蛋白(LDL-C)(t =38.401,P =0.000)。结论 Ghrelin基因 Leu72Met 位点 SNP 与 EH 易患性之间存在显著关联性,C 碱基突变为 A 可能降低 EH 患病风险。Ghrelin基因 Leu72Met 位点 SNP 与血浆 ghrelin 水平、血压及血脂相关,C 碱基突变为 A 可以升高血浆 ghrelin 水平,降低血压和血脂。
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abstractsObjective To observe the Leu72Met single nucleotide polymorphism (SNP)of ghrelin gene and the relationship with essential hypertension (EH).Methods Polymerase chain reaction -restriction fragment length polymorphism (PCR -RFLP)was used to detect the Leu72Met SNP of ghrelin gene in 210 EH patients and 220 healthy controls.The plasma ghrelin was detected by radioimmunoassay method collected from all subjects. Results There were three types of polymorphism of ghrelin gene at the base site Leu72Met.There were significant differences in the genotypes (CC,CA,AA)and alleles (C,A)between the EH patients and the controls (χ2 =6.054,P =0.048;χ2 =5.866,P =0.015).In EH group,the plasma ghrelin level in subjects who were homozygous CC without mutant was not only significantly lower than those who were heterozygous CA,but also lower than those who were nucleotide homozygous mutant AA (t =-8.738,P =0.000;t =-5.103,P =0.000).The patients with CC genotype had higher SBP (t =4.298,P =0.000;t =2.236,P =0.019)and lower HDL -C (t =-11.682,P =0.000;t =-7.872,P =0.000).The patients with A allele had lower plasma ghrelin (t =-16.264,P =0.000), HDL -C (t =-15.332,P =0.000)and higher SBP(t =3.800,P =0.000),DBP(t =11.895,P =0.000),and LDL -C (t =38.401,P =0.000).Conclusion The Leu72Met SNP of ghrelin gene is significantly related to the susceptibility of EH.Base mutation C to A reduced the incidence of EH.The Leu72Met polymorphism of ghrelin gene is related to the plasma ghrelin,blood pressure and blood lipid metabolism.Base mutation C to A elevated plasma ghrelin,and lowered blood pressure and blood lipid.
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