解放军医学杂志2024，Vol.49Issue(9)：986-991,6.DOI:10.11855/j.issn.0577-7402.0985.2024.0506
海南地区eNOS基因单核苷酸多态性与系统性红斑狼疮的相关性分析
Correlation analysis between eNOS gene single nucleotide polymorphism and systemic lupus erythematosus in Hainan
摘要
Abstract
Objective To investigate the relationship between single nucleotide polymorphisms(SNPs)in the eNOS gene and genetic susceptibility to systemic lupus erythematosus(SLE)in Hainan.Methods Blood samples were collected from SLE patients(SLE group,n=214)and healthy controls(control group,n=214)from January 2020 to December 2022 at the First Affiliated Hospital of Hainan Medical College and Hainan Provincial People's Hospital.The bases of eNOS gene rs3918188,rs1799983 and rs1007311 loci in each group were detected by SNaPshot sequencing technology.Logistic regression was used to analyze the correlation between genotypes,alleles and gene models(dominant model,recessive model,and overdominant model)of the above 3 target loci of the eNOS gene and genetic susceptibility to SLE.Haplotype analysis was conducted using HaploView 4.2 software to investigate the relationship between haploid and genetic susceptibility to SLE at each site.Results The results of logistic regression analysis revealed that the CC genotype and the C allele at rs3918188 locus were risk factors for genetic susceptibility to SLE(CC vs.AA:OR=2.449,P<0.05;C vs.A:OR=2.133,P<0.001).In recessive model at rs3918188 locus,CC genotype carriers had an increased risk of SLE development compared with AA+AC genotype carriers(OR=2.774,P<0.001).In contrast,in overdominant model at this locus,AC genotype carriers had a decreased risk of SLE occurrence compared with AA+CC genotype carriers(OR=0.385,P<0.001).In addition,polymorphisms of rs1799983 and rs1007311 were not associated with susceptibility to SLE in genotype,allele type and the 3 genetic models(P>0.05).Haplotype analysis revealed a strong linkage disequilibrium between the rs1007311 and rs1799983 loci of the eNOS gene,but no significant correlation was found between haplotype and genetic susceptibility to SLE(P>0.05).Conclusion The CC genotype and C allele at rs3918188 locus of eNOS gene may be risk factors for SLE in Hainan,while the risk of SLE occurrence is reduced in carriers of AC genotype under the overdominant model.关键词
系统性红斑狼疮/内皮型一氧化氮合酶/单核苷酸多态性Key words
systemic lupus erythematosus/endothelial nitric oxide synthase/single nucleotide polymorphism分类
医药卫生引用本文复制引用
张绚,弥龙,庄燕苹,宫爱民,武慧韬,张琦,林桂玲,尹溪语,许文露,王喆,贺梓蔓,刘颖..海南地区eNOS基因单核苷酸多态性与系统性红斑狼疮的相关性分析[J].解放军医学杂志,2024,49(9):986-991,6.基金项目
This work was supported by the National Natural Science Foundation of China(81760840,82160874),the Key Research and Development Project of Science and Technology Department of Hainan Province(ZDYF2022SHFZ078),and the Innovative Research Project of Hainan Graduate Students(Qhys2022-301) 国家自然科学基金(81760840,82160874) （81760840,82160874）
海南省科技厅重点研发项目(ZDYF2022SHFZ078) （ZDYF2022SHFZ078）
海南省研究生创新科研课题(Qhys2022-301) （Qhys2022-301）
