Study On Relationship Between Antithrombin Gene Polymorphisms And Susceptibility To Pulmonary Thromboembolism In Han People In Shanghai

Objective To investigate the relationship between antithrombin gene polymorphisms and susceptibility to pulmonary thromboembolism in Han people in Shanghai.Methods A case-control study design was adopt in the 72 patient with pulmonary thromboembolism and 69 healthy control subjects collected in Han people in Shanghai in this study.Candidate tag single nucleotide polymorphisms in antithrombin gene (rs9425775,rs16846561,rs7525115,rs1951626) come from Hapmap database;We sequenced the promoter regions of antithrombin gene and found three novel polymorphisms-13437A/C,-13449G/C,-14246G/T;rs2227589 and rs2227593 were reported by western country investigators.The polymorphisms of antithrombin gene were detected with SNaPshot.The genotype and allele frequencies,the D'value between nine single nucleotide polymorphisms sites,the haplotype and their frequencies were analyzed, respectively.Results(1) There were no significant differences between antithrombin gene polymorphisms the genotype and allele frequencies between patients and controls(P＞0.05) in Han people in Shanghai.(2) The 5 haplotypes were GCAGGGCGG,GCAGGTCGA, GGAGGGTAG,TCCGGGCAG,GGACGGTAG in Han people in Shanghai,and their haplotype frequencies were distributed similarly in pulmonary thromboembolism 30.8% (44/72),32.6%(47/72 ),19.2%(28/72),5.6%(8/72 ),9%(7/72 ),and in the control33.3% (46/69),28.2%(39/69),18.8%(26/69),9.4%(13/69),4.3%(6/69).None of these differences were statistically significant(all p＞0.05).D'＞0.9.There are strong linkage disequilibrium between the nine single nucleotide polymorphisms site in antithrombin gene in Han people in Shanghai.Conclusion In Han people in Shanghai antithrombin gene polymorphisms site are not associated with susceptibility to pulmonary thromboembolism,antithrombin gene polymorphisms sites are not susceptibility single nucleotide polymorphisms site of pulmonary thromboembolism in Han people in Shanghai.