| Objective:This study aims to explore the connection among single nucleotide polymorphism(SNP)of APJ receptor gene and the incidence and conditions of prognosis of acute cerebral infarction,and to probe the genetic level of susceptibility to the onset of cerebral infarction,collateral circulation formation and the influencing factors of short-term prognosis.It offers fundamental basis for genetic diagnosis,treatment options and targeting gene therapy therapy in patients with cerebral infarction.Methods:(1)The basic information,past medical history,diagnosis and treatment process,blood biochemical indicators and general clinical data of 221 patients with cerebral infarction in the Affiliated Hospital of Youjiang Medical College for Nationalities who met the diagnostic criteria of 2018 Chinese Guidelines for the Diagnosis and Treatment of Acute ischemic Stroke were collected.At the same time,136 healthy non-cerebrovascular disease patients with matched age and gender were collected in the physical examination center of our hospital as the control group,and the difference of basic data among the cerebral infarction group and the control group was analyzed to determine whether the two groups are comparable.(2)Peripheral blood samples of the study subjects were collected and DNA was extracted.Ligase Detection reaction(LDR)technology was used to extend the target gene fragment,and Gene Marker analyzed product information to determine genotype.The genotypic distribution frequency of the samples was consistent with Hardy-Weinberg equilibrium.Case-control method was used to statistically analyze the differential distribution of SNP in APJ receptor in cerebral infarction group and control group,and search for SNP polymorphic sites associated with cerebral infarction.(3)Vascular examination was performed in the case group,and ASITN/SIR scoring was performed on Digital subtraction angiography(DSA)images by 2 attending physicians specializing in neurointerventional intervention.The 0-2 group was the poor collateral circulation group,and the 3-4 group was the good collateral circulation group.The case-control method was used to statistically analyze the differential distribution of SNP in APJ receptor in the good collateral circulation group and the bad collateral circulation group,so as to find the SNP polymorphic sites associated with collateral circulation formation in patients with cerebral infarction.(4)After 90 days of onset,the patient group was followed up by telephone and m RS score was performed.MRS score≥2 was in the badness prognosis group,and m RS score<2was classified as good prognosis group.The case-control method was used to statistically analyze the differential distribution of APJ receptor SNP in the badness prognosis group and the fine prognosis group and to discover the SNP polymorphic sites associated with the degree of vascular stenosis in patients with cerebral infarction.(5)SPSS26.0χ~2test was used to calculate the difference between genotype and susceptibility to cerebral infarction,collateral circulation and short-term prognosis.Combined with clinical data,an OVA was used to analyze the relationship between APJ receptor genotype and the risk of cerebral infarction,and logistic regression was used to analyze the risk of cerebral infarction.Results:(1)Rs7119375 detected GG,AG and AA genotypes,rs10501367 detected CC,CT and TT genotypes,genotype distribution of selected subjects byX~2test P values were greater than0.05,genotype distribution in line with Hardy-Weinberg genetic balance law.The sample selected is representative of the population.(2)There was no significant difference in genotype frequency distribution of RS7119375between case group and control group(X~2=4.077,P=0.130),but There were statistically significant differences in allele frequency distribution among case group and matched group group(χ~2=4.503,P=0.034).Compared with G allele,rs7119375 allele A has A higher risk of cerebral infarction.There was no significant difference in genotype frequency distribution(χ~2=1.819,P=0.403)and allele frequency distribution(χ~2=1.683,P=0.195)of RS10501367.(3)Rs7119375 genotype frequency distribution(χ~2=9.475,P=0.009)was significantly different between the good collateral group and the bad collateral group.The difference in allele frequency distribution(χ~2=6.917,P=0.009)was statistically significant,suggesting that the A allele at RS7119375 had A higher risk of adverse collateral circulation than the G allele,and the proportion of AA genotype frequency in the adverse collateral circulation group was higher.The OR value of AA/(GG+AG)in recessive model was 2.951,suggesting that AA genotype was related to collateral dysplasia.There was no significant difference in genotype frequency distribution(χ~2=1.484,P=0.476)and allele frequency distribution(χ~2=0.878,P=0.349)of RS10501367.(4)There was no distinct significative disparity in genotype frequency distribution(χ~2=2.694,P=0.260)and allele frequency distribution(χ~2=0.711,P=0.399)of RS7119375between the good prognosis group and the poor prognosis group.There was no significant difference in genotype frequency distribution(χ~2=3.458,P=0.178)and allele frequency distribution(χ~2=0.024,P=0.877)of RS10501367.Conclusion:(1)Rs7119375 polymorphism of APJ receptor gene locus may be related to susceptibility to cerebral infarction,and the A allele may be A risk factor for cerebral infarction.(2)Rs7119375 polymorphism of APJ receptor gene locus may be related to collateral circulation in patients with cerebral infarction,in which A allele may be A risk factor for adverse collateral circulation in patients with cerebral infarction,and AA genotype is an independent risk factor for adverse collateral circulation in patients with cerebral infarction.(3)Rs7119375 polymorphism of APJ receptor gene locus may not be associated with short-term prognosis of patients with cerebral infarction. |
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