1.Analysis of the Distribution Characteristics of Gene Polymorphism Related to Antihypertensive Drugs in 306 Patients with Essential Hypertension in Xi'an Area
Yu ZHANG ; Shangjun LÜ ; Qingyun QUAN ; Xiaoyan WANG ; Xiaojie ZHANG ; Yun TAN
Journal of Modern Laboratory Medicine 2024;39(3):90-97
Objective To analyze the distribution characteristics of 9 hypertension drug related gene polymorphisms in the population of essential hypertension(EH)in Xi'an area,providing an objective basis for personalized treatment.Methods A total of 306 EH patients who visited the Shaanxi Provincial Armed Police Force Hospital from January 2022 to December 2023 were selected as the research subjects.The PCR melting curve method was used to detect 9 hypertension drug related gene polymorphisms,their genotype and allele distribution frequency were analyzed,and the correlations of gene polymorphism among patients of different genders,ages,and hypertension grading groups were compared.Results Among 306 patients,the distribution frequencies of each gene were consistent with Hardy Weinberg equilibrium(x2=0.153~2.941,all P>0.05).Mutation rates of various gene were as follows:SLCO1B1 c.388A>G,ADRB1 c.1165G>C,MTHFR C677T,ADD1 c.1378G>T,CYP2D6 c.100C>T,ACE I/D,CYP3A5 c.806-4288C>T,SLCO1B1 c.521T>C,AGTR1 c.1166A>C and CYP2C9 c.1075A>C were 77.29%,73.20%,56.54%,48.37%,50.82%,35.13%,29.41%,11.76%,7.68%and 3.43%,respectively,and CYP2C9 c.403C>T had no mutation.Comparing with patients of different genders,the mutation rate of SLCO1B1 c.388A>G genotype and allele mutations in male group were higher than those in the female group(x2=5.221,8.237),the mutation rate of CYP2D6 c.100C>T genotype and allele in the female group were higher than those in the male group(x2=5.093,9.661),the mutation rate of ACE I/D allele in the male group was higher than that in the female group(x2=6.118,8.032),with significant differences(all P<0.05).The mutation rates of CYP2C9 c.1075A>C,SLCO1B1 c.388A>G,CYP2D6 c.100C>T genotypes and alleles in the middle-aged and young age group were higher than those in the elderly group,and the differences were statistically significant(x2=11.683,10.243;9.003,9.803;10.617,9.931,all P<0.05).There was no significant difference in the comparison of other genotypes and alleles among different gender and age groups and in the frequency of genotype and allele mutations among different hypertension grading groups(x2=1.321~7.733,1.031~5.198,all P>0.05).Conclusion The distribution of gene polymorphisms related to antihypertensive drugs in the Xi'an area was related to the gender and age of EH patients.Thus,the genotype testing of antihypertensive drugs may have important guiding significance for personalized medication treatment of EH patients.