Clinical Characteristics Of Dilated Cardiomyopathy And Its Association With A331T Mutation Of SDHA Gene

Objective: The association between SDHA gene mutation and dilated cardiomyopathy is not clear in Chinese population.The purpose of this study was to investigate the relationship between dilated cardiomyopathy and SDHA gene in the population of Western Guangxi.Methods:(1)According to the informed principle,87 patients with dilated cardiomyopathy diagnosed in the Department of Cardiology,Affiliated Hospital of Youjiang Medical College for Nationalities from September 2018 to September 2020 were selected as the experimental group,and 100 patients with non dilated cardiomyopathy admitted in the same period were selected as the control group.All the patients in the case group and the control group were from Han and ethnic groups in Western Guangxi of China.(2)Fasting blood samples of all subjects were collected for biochemical index test and DNA detection.The age,gender,nationality and other general information of the subjects were collected,and the biochemical indexes including low density lipoprotein cholesterol(LDL-C),high density lipoprotein(HDL-C),total cholesterol(TC),uric acid(UA)and B-type natriuretic peptide(B-type natriuretic peptide)were collected,The results of echocardiography were collected,including left ventricular ejection fraction(LVEF),diastolic septum thickness(IVSD),left ventricular end diastolic dimension(LVEDd),left atrium systolic dimension(LAD),LAS and so on.(3)The SNP rs200526913 polymorphism of SDHA gene was detected by polymerase chain reaction(PCR).Hardy Weinberg genetic equilibrium law was used to test the representativeness of sample population.SPSS 23.0 software was used for statistical analysis of the experimental data.Independent sample t-test,chi square test and logistic regression model were used to analyze the clinical data and genotype data of the samples to explore the correlation between rs200526913 polymorphism of SDHA gene locus and dilated cardiomyopathy.result:(1)In 87 cases of dilated cardiomyopathy group and 100 cases of control group,there were significant differences in age,male,UA,LVEDd,EF and IVSD between the two groups(P<0.05),but there were no significant differences in TC,HDL-C,LDL-C and RAS indexes(P>0.05).(2)A missense mutation(A331T)in SDHA gene was found,that is,the base 991 of SDHA gene changed from G to A(c.991G>A),resulting in the amino acid 331 of SDHA gene changed from alanine to threonine.Conclusion:(1)SDHA gene is the pathogenic gene of dilated cardiomyopathy in Western Guangxi.(2)A331T mutation of SDHA gene was found for the first time.