云南哈尼族糜蛋白酶基因标签SNPs与原发性高血压的相关性研究

采用聚合酶链式反应-限制性片段长度多态性方法,对692例哈尼族人(高血压患者346例,正常对照个体346例)糜蛋白酶基因(chymase,CMA1)4个tag SNPs (rs1956921、rs1800876、rs5244和rs1885108)的多态性进行检测,并运用遗传模型研究CMA1基因tag SNPs与原发性高血压发生的相关性.结果显示,CMA1基因4个tag SNPs位点在混合人群和女性人群中均未显示出与原发性高血压的相关性;男性人群中,rs1800876位点基因型频率在对照组和高血压间的分布具有统计学意义(P=0.015),Logistic回归分析发现rs1800876位点TC和CC基因型携带者的患病风险显著降低(OR=0.59,95% CI为0.38~0.92,P=0.021),提示CMA1基因rs1800876位点与云南哈尼族男性原发性高血压发生相关.

Association between the CMA1 gene tag SNPs and essential hypertension in Hani Population in Yunnan

To investigate the association between the tag single nucleotide polymorphisms (tag SNPs) in the chymase gene (CMA1) and essential hypertension (EH) in Hani Population in Yunnan Province,four tag SNPs(rs1956921,rs1800876,rs5244 and rs1885108) of the CMA1 gene were genotyped in Yunnan Hani (cases=346, controls=346) Population by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method based on the case-control strategy.The results indicated that no significant difference was found in the genotype and allele distributions of the 4 polymorphisms between the control and the case subjects (P0.05),the same results were found in the females group alone.While in males,the frequency of rs1800876 genotype showed significant difference (P=0.015), and Logistic analysis showed that carriers with TC/CC genotype had lower risk of hypertension (OR=0.59,95% CI=0.38～0.92,P=0.021).The present results suggested that rs1800876 in CMA1 gene was significantly associated with essential hypertension in Yunnan Hani male group.