摘要
目的了解阿司匹林药效相关血小板膜糖蛋白GPⅠa基因G873A和C807T位点在心脑血管疾病及糖尿病患者中的多态性分布状况。方法收集2018年9月—2020年10月铜陵市人民医院进行阿司匹林药效相关基因位点检测的患者811例,其中心血管疾病患者106例(心血管疾病组)、脑血管疾病患者597例(脑血管疾病组)、糖尿病患者108例(糖尿病组)。采用焦磷酸测序法测定3个组GPⅠa基因G873A、C807T位点多态型。结果单个病例GPⅠa基因G873A、C807T位点野生型、杂合突变型和纯合突变型均同步出现,杂合突变型、纯合突变型合计为47.17%~53.27%,等位基因A、T均为24.53%~31.48%。糖尿病组2个基因位点纯合突变型为13.89%,高于心血管疾病组(1.89%)和脑血管疾病组(8.21%);杂合突变型为35.19%,低于心血管疾病组(45.28%)和脑血管疾病组(45.06%);基因型分布与心血管疾病组、脑血管疾病组比较,差异有统计学意义(P<0.01)。3个组等位基因分布差异无统计学意义(P>0.05)。3个组不同性别患者比较,2个基因位点基因型和等位基因分布差异均无统计学意义(P>0.05)。将所有患者按年龄分为29~60岁、61~70岁、71~80岁、81~94岁4个年龄亚组,4个年龄亚组2个基因位点基因型和等位基因分布差异均无统计学意义(P>0.05)。结论阿司匹林药效相关GPⅠa基因G873A、C807T位点在心脑血管疾病和糖尿病患者中的基因多态性分布与性别、年龄无关,2个基因位点突变现象较为常见,突变存在个体间差异,可能影响临床抗血小板治疗效果。糖尿病患者2个基因位点纯合突变率高于心血管疾病患者和脑血管疾病患者。
Objective To investigate the polymorphism distribution of aspirin efficacy related platelet membrane glycoprotein GPⅠa gene G873A and C807T in cardio-cerebrovascular disease and diabetes mellitus.Methods A total of 811 patients from September 2018 to October 2020 in Tongling People's Hospital,including 106 cases of cardiovascular diseases,597 cases of cerebrovascular diseases,108 cases of diabetes mellitus,were enrolled,and the polymorphisms of GPⅠa G873A and C807T were determined by pyrophosphate sequencing method.Results Wild type,heterozygous mutation type and homozygous mutation type of GPⅠa G873A and C807T all synchronously appeared in the same cases,the sum of heterozygous mutation type and homozygous mutation type was 47.17%-53.27%,and the sum of allele type A and type T was 24.53%-31.48%.In diabetes mellitus group,homozygous mutation type of 2 gene loci accounted for 13.89%,which was higher than those in cardiovascular disease group(1.89%)and cerebrovascular disease group(8.21%),while the percentage of heterozygous mutation type(35.19%)was lower than those in cardiovascular disease group(45.28%)and cerebrovascular disease group(45.06%),and compared with cardiovascular disease group and cerebrovascular disease group,there was statistical significance for genotype distribution(P<0.01).There was no statistical significance for allele distributions among the 3 groups(P>0.05).There was no statistical significance for 2 genetic locus genotypes and allele distributions between males and females among the 3 groups(P>0.05).The cardiovascular and cerebrovascular disease patients by age were classified into 29-60-year-old,61-70-year-old,71-80-year-old and 81-94-year-old groups,respectively,and 2 genetic locus genotype and allele distributions had no statistical significance(P>0.05).Conclusions Polymorphism distribution of aspirin efficacy related GPⅠa gene G873A and C807T has no correlation with sex and age,and the mutation phenomenon of the 2 gene loci is relatively common.The mutations exist differences be
作者
焦瑞宝
唐吉斌
周佳丽
朱娟娟
陈继中
JIAO Ruibao;TANG Jibin;ZHOU Jiali;ZHU Juanjuan;CHEN Jizhong(Department of Clinical Laboratory,Tongling People's Hospital,Wannan Medical College,Tongling 244000,Anhui,China)
出处
《检验医学》
CAS
2021年第6期581-585,共5页
Laboratory Medicine
基金
安徽省铜陵市科技计划项目(20190203034)。
