| Objective: Coronary heart disease(CHD),also known as atherosclerotic heart disease,refers to a type of cardiovascular disease where the coronary arteries experience reduced blood flow and oxygen supply due to functional or pathological changes.Unfortunately,the etiology and pathogenesis of CHD are not yet fully understood.However,with ongoing advances in medical research,it has been recognized that CHD is a complex disease influenced by various factors such as lifestyle habits,living environment,and genetic background.Among these factors,genetics is considered to be one of the highest risk factors.Currently,the relationship between single nucleotide polymorphisms(SNPs)as the third-generation DNA molecular markers for detecting genomic variations and CHD has received significant attention in the academic field.Whole-genome sequencing(WGS)is the most comprehensive method for analyzing the genome,as it allows for the comprehensive exploration of various types of genomic variations(SNV,SNP,In Del,CNV,SV).It provides comprehensive information for the identification of susceptibility genes,single-gene disease screening,cancer screening,and offers valuable guidance for clinical diagnosis.In this study,WGS technology was employed to detect SNP sites in a sporadic population of patients from Bayannur Hospital in Inner Mongolia.Methods: The study aimed to preliminarily screen SNP sites and regions significantly associated with CHD,providing a basis for further investigation into the pathogenesis of CHD.From 2017 to 2021,a total of 450 cases were selected from patients admitted to the Cardiology Department of Bayannur Hospital,including 300 cases with CHD and 150 cases with normal coronary arteries.Clinical data related to this sporadic population,suc h as age,presence of hypert ension and diabetes,smoking history,and alcohol consumption,were collected.Peripheral venous blood samples(3 m L)were collected for DNA extraction.The obtained raw sequencing data from the 450 samples underwent quality control using software such as SOAPnuke and BWA,strictly selecting qualified samples for subsequent analysis.Various data detection methods,including SNP,In Del,CNV,SV,were utilized for bioinformatics annotation,providing comprehensive analysis results.During the process of SNP site detection,strict quality control was performed using plink software,resulting in the retention of a certain number of samples and sites for subsequent association analysis.Finally,the candidate gene range was narrowed down through filtering and selection using the Dis Ge NET and Gene Cards databases,followed by the exploration of the biological characteristics of the candidate genes and the mechanisms they may be involved in during CHD development.Results: Preliminary screenin Examine the biological properties of candidate genes and the potential mechanisms of action of the encoded proteins,and eliminate the CHD-related disease-causing genes.g results were obtained by sequencing,database construction,quality control,detection,filtering,annotation,correlation analysis,and screening of Dis Ge NET and Gene Cards databases.Finally,a total of 5 candidate genes were screened: DNAH11,CX3CR1,PON1,ESR2 and VWF.Conclusion: Ultimately,five candidate genes were identified: DNAH11,CX3CR1,PON1,ESR2,and VWF.we hypothesize that DNAH11,CX3CR1,PON1,ESR2,and VWF are susceptibility genes for CHD in the Inner Mongolian population.However,the specific pathogenic mechanisms of these susceptibility genes in the occurrence of CHD require further validation through large-sample studies and functional investigations. |
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