高血压药物基因多态性分析对安徽皖南地区高血压患者个体化治疗的参考价值

Clinical value of genetic polymorphism analysis of hypertension drugs for individualized treatment of hypertension patients in the southern Anhui region

目的:分析皖南地区高血压患者β受体阻滞剂、血管紧张素受体拮抗剂(ARB)、血管紧张素转换酶抑制剂(ACEI)、钙离子拮抗剂及利尿剂药物基因多态性分布频率,为高血压药物基因检测工作和个性化用药提供理论依据。方法:搜集2021年7月至2023年4月皖南医学院弋矶山医院839例高血压住院患者药物基因检测信息,分析各基因位点分布频率。结果:ACE(I/D)I/I、I/D及D/D基因型频率分别为42.1%、46.0%、11.9%;肾上腺素能受体β1(ADRB1)(1165G>C)G/G、G/C及C/C基因型频率分别为8.3%、40.0%、51.6%;血管紧张素Ⅱ受体1(AGTR1)(1166A>C)A/A、A/C及C/C基因型频率分别为90.2%、9.8%、0.0%;CYP2C9*3(1075A>C)*1/*1、*1/*3及*3/*3基因型频率分别为91.3%、8.7%、0.0%;CYP2D6*10(100C>T)*1/*1、*1/*10及*10/*10基因型频率分别为25.0%、36.6%、38.4%;CYP3A5*3(6986A>G)*1/*1、*1/*3及*3/*3基因型频率分别为7.0%、39.0%、54.0%;钠尿肽前体蛋白A(NPPA)(2238T>C)T/T、T/C及C/C基因型频率分别为97.9%、2.1%、0.0%。此外,皖南地区多个药物相关基因位点基因型分布频率与中国其他地区存在统计学差异(P<0.05)。结论:皖南地区高血压药物相关基因位点基因型分布频率具有一定偏向性,且与中国其他地区相比存在统计学差异,提示开展高血压药物基因多态性检测对皖南地区高血压药物个体化应用具有一定指导意义。

AIM:To analyze the distribution fre-quency of gene polymorphisms ofβreceptor block-ers,angiotensin receptor antagonists,angiotensin converting enzyme inhibitors,calcium antagonists,and diuretics in hypertensive patients from south-cal College from July 2021 to April 2023 were col-lected,and the distribution frequency of each gene locus were analyzed.RESULTS:The genotype frequencies of ACE(I/D)I/I,I/D,and D/D were 42.1%,46.0%,and 11.9%,respectively.the geno-type frequencies of ADRB1(1165G>C)G/G,G/C,and C/C were 8.3%,40.0%,and 51.6%,respectively.The genotype frequencies of AGTR1(1166A>C)A/A,A/C,and C/C were 90.2%,9.8%,and 0.0%.The gen-otype frequencies of CYP2C9*3(1075A>C)*1/*1,*1/*3,and*3/*3 were 91.3%,8.7%,and 0.0%,re-spectively;the genotype frequencies of CYP2D6*10(100C>T)*1/*1,*1/*10,and*10/*10 were 25.0%,36.6%,and 38.4%,respectively.The geno-type frequencies of CYP3A5*3(6986A>G)*1/*1,*1/*3,and*3/*3 were 7.0%,39.0%,and 54.0%,re-spectively.The frequencies of NPPA(2238T>C)T/T,T/C,and C/C genotypes were 97.9%,2.1%,and 0.0%,respectively.In addition,there was a signifi-cant difference in the genotype distribution fre-quency of multiple drug related gene loci in south-ern Anhui compared to other regions in China(P<0.05).CONCLUSION:The genotype distribution fre-quency of hypertensive drug related gene loci had certain bias in southern Anhui,and were significant different from other regions in China,indicating that conducting genetic polymorphism testing of hypertensive drugs had certain guiding significance for the individualized application of hypertensive drugs in southern Anhui.