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目的探讨脑钠肽基因(NPPB)位点RS198389的多态性与海南黎族原发性高血压及汉族原发性高血压的关系。方法以2015年3月—2016年3月陵水自治区县人民医院黎、汉族住院的原发性高血压患者272例(黎族136例,汉族136例)作为实验组,同时选取黎族汉族健康人群272例(黎族136例,汉族136例)作为对照组,各组间在年龄性别等方面差异无统计学意义(P>0.05)。采用等位基因特异性PCR方法,对NPPB基因RS198389突变位点进行多态性检测,并比较两组基因型频率和等位基因频率。结果黎族高血压组的NPPB基因RS198389多态性位点的TT、TC、CC基因型频率分布为50.7%、44.1%、5.2%,黎族正常对照组TT、TC、CC基因型频率分布为72.8%、23.5%、3.7%,分布差异有统计学意义(P<0.05)。汉族高血压组的NPPB基因RS198389 TT、TC、CC基因型频率分布为17.6%、77.2%、5.2%,汉族健康对照组TT、TC、CC基因型频率分布为63.2%、34.6%、2.2%,分布差异有统计学意义(P<0.05)。结论NPPB基因RS198389多态性位点与海南岛汉族和黎族人群原发性高血压的发病均具有相关性;汉族和黎族组间比较,NPPB基因RS198389多态性位点与黎族高血压的相关性更为明显。
Objective To investigate the relationship between polymorphism of brain natriuretic peptide (NPPB) locus RS198389 and essential hypertension in Hainan Li and essential hypertension in Han Chinese. Methods From March 2015 to March 2016, 272 patients with primary hypertension (136 Li and 136 Han patients) in Li and Han nationality hospital of Li and Han nationality in Lingshui Autonomous County People’s Hospital were selected as the experimental group. Cases (Li 136 cases, Han 136 cases) as a control group, the differences in age and gender between the groups was not statistically significant (P> 0.05). The allele-specific PCR method was used to detect the polymorphism of the NPPB gene rs198389 mutation locus, and the genotype frequency and allele frequency of the two groups were compared. Results The frequency distributions of TT, TC and CC genotypes of NPPB gene polymorphism in Li population were 50.7%, 44.1% and 5.2%, respectively. The frequencies of TT, TC and CC genotypes in Li normal control group were 72.8% , 23.5% and 3.7%, respectively, with significant difference (P <0.05). The frequencies of TT, TC and CC genotypes of Han nationality hypertension group were 17.6%, 77.2% and 5.2%, respectively. The frequency distributions of TT, TC and CC genotypes of NPPB gene of Han nationality were 63.2%, 34.6% and 2.2% The distribution difference was statistically significant (P <0.05). Conclusion The SNP rs198389 polymorphism of NPPB gene is associated with the incidence of essential hypertension in Han and Li ethnic groups in Hainan Island. The correlation between SNP rs198389 polymorphism of NPPB gene and Li high blood pressure in Han and Li ethnic groups More obvious.