The Correlation Analysis Between Single Nucleotide Polymorphisms Of PYCR1 Gene And Dilated Cardiomyopathy In Han Nationality In Yunnan

Objectives:1)To explore the relationship between single nucleotide polymorphism(SNP)of PYCR1 gene and susceptibility to dilated cardiomyopathy(DCM).2)To explore the relationship between SNP of PYCR1 gene and BNP,Classification of NYHA heart function and cardiac ultrasound parameters in patients with DCM.Methods:1.This study object is the han nationality in Yunnan.A total of 59 DCM patients hospitalized in the Department of Cardiology,the first affiliated Hospital of Kunming Medical University from January 2018 to June 2020 were selected as the case group,including 39 males(66.1%)and 20 females(33.9%).Another 14 healthy volunteers from the physical examination center of the first affiliated Hospital of Kunming Medical University in the same period were selected as the normal control group,including 5 males(35.7%)and 9 females(64.3%).All the participants are independent individuals who are not related to each other.Taking the full-length NG023032.1 sequence of PYCR1 gene as the reference sequence,genomic DNA was extracted from the peripheral blood of 59 patients with DCM and 14 healthy volunteers.After designing primers,the target sequences of DCM patients and healthy volunteers were amplified by polymerase chain reaction(PCR).The base sequences of the two groups of amplified products were determined by second generation sequencing,and the sequences were compared with the reference bases of PYCR1 gene.SNP loci related to DCM susceptibility were screened,and then the genotypes and allele frequencies of SNP loci were statistically screened.Chi-square test was used to compare the statistical differences of genotype frequency and allele frequency of SNP loci between the case group and the healthy control group.2.Count the following information of each participant:sex,age,smoking,hypertension,blood routine,liver and kidney function,blood lipids,myoglobin,troponin,B-type brain natriuretic peptide(BNP),New York Heart Association(NAHA),Left ventricular ejection fraction(LVEF),Left ventricular end diastolic diameter(LVEDD),and Left atrial diameter(LAD),ect.To explore the relationship between PYCR1 gene polymorphisms and BNP,Classification of NYHA heart function and cardiac ultrasound parameters in patients with DCM.Results:1.In this study,two polymorphic loci of PYCR1 gene were found to be associated with DCM susceptibility in Yunnan population.These two loci are rs906195321(5695C/A)and rs1257773716(5761C/A).Both of them are point mutations and are located in the intron region of PYCR1 gene.2.There were significant differences in the three polymorphic genotypes(CC/CA/AA)and alleles(C/A)of PYCR1 gene rs906195321(5695C/A)polymorphic loci between the DCM case group and the normal control group.In the DCM case group,this polymorphic loci of CC/CA/AA genotypes frequency were 27.1%,18.6%and 54.2%,respectively,and the C/A allele frequency were 36.4%and 63.6%.The CA and AA genotypes frequency and A allele frequency increased significantly in the DCM group,difference was statistically significant(P<0.05).In addition,the AA genotype of this loci may be a risk factor for DCM,with an OR of 11.87(95%CIAA=1.17-121.00,PAA=0.037).That is to say,the risk of developing DCM in individuals with AA genotype is 11.87 times higher than individuals with CC genotype.3.There were significant differences in the three polymorphic genotypes(CC/CA/AA)and alleles(C/A)of PYCR1 gene rs1257773716(5761C/A)polymorphic loci between the DCM case group and the normal control group.In the DCM case group,this polymorphic loci of CC/CA/AA genotypes frequency were 27.1%,8.5%and 64.4%,respectively,and the C/A allele frequency were 31.4%and 68.6%.The AA genotypes frequency and A allele frequency increased significantly in the DCM group,difference was statistically significant(P<0.05).In addition,the AA genotype of this loci may be a risk factor for DCM,with an OR of 14.81(95%CIAA=1.42-154.80,PAA=0.024).That is to say,the risk of developing DCM in individuals with AA genotype is 14.81 times higher than individuals with CC genotype.4.In PYCR1 gene rs906195321(5695C/A)polymorphic loci,it was found that the LAD level of CA and AA genotype group in DCM patients was significantly higher than that in CC genotype group,and the difference among the three groups was statistically significant(P<0.05).BNP,Classification of NYHA heart function and other cardiac ultrasound parameters increased in CC genotype group,but there was no significant difference among the three groups.5.In PYCR1 gene rs1257773716(5761C/A)polymorphic loci,it was found that the LAD level of CA and AA genotype group in DCM patients was significantly higher than that in CC genotype group,and the difference among the three groups was statistically significant(P<0.05).Classification of NYHA heart function and other cardiac ultrasound parameters increased in CC genotype group,but there was no significant difference among the three groups.Conclusion:1.Located on the intron of PYCR1 gene rs906195321 and rs1257773716 single nucleotide polymorphism may be associated with the DCM susceptibility in han nationality in Yunnan.With AA genotype of the two polymorphic loci may be increasing risk of DCM,which may be a genetic susceptibility factors of DCM.