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OA北大核心CSTPCD
Correlation analysis between eNOS gene single nucleotide polymorphism and systemic lupus erythematosus in Hainan
目的 探讨海南地区内皮型一氧化氮合酶(eNOS)基因单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)遗传易感性的关系.方法 收集2020年1月-2022年12月在海南医学院第一附属医院及海南省人民医院的海南籍SLE患者(SLE组,n=214)及健康对照者(对照组,n=214)的血液样本,通过SNaPshot测序技术检测两组eNOS基因rs3918188、rs1799983及rs1007311位点的碱基情况,并采用logistic回归分析eNOS基因上述3个目的位点的基因型、等位基因及基因模型(显性模型、隐性模型、超显性模型)与SLE遗传易感性之间的相关性.采用HaploView 4.2软件分析各位点的单倍体与SLE遗传易感性的关系.结果 Logistic回归分析结果显示,rs3918188位点中,CC基因型及C等位基因是SLE遗传易感性的危险因素(CC vs.AA:OR=2.449,P<0.05;C vs.A:OR=2.133,P<0.001).在rs3918188位点的隐性模型中,与AA+AC基因型携带者比较,CC基因型携带者的SLE发生风险增高(OR=2.774,P<0.001);而在该位点的超显性模型中,与AA+CC基因型携带者比较,AC基因型携带者的SLE发生风险降低(OR=0.385,P<0.001).此外,在基因型、等位基因型以及3种基因模型中,rs1799983和rs1007311的多态性均与SLE的易感性无明显相关(P>0.05).单倍型分析显示,eNOS基因的rs1007311和rs1799983位点之间存在强连锁不平衡,但单倍型与SLE的遗传易感性无明显相关(P>0.05).结论 海南地区eNOS基因rs3918188位点的CC基因型和C等位基因可能是SLE的危险因素,而在超显性模型下该位点AC基因型携带者的SLE发生风险降低.
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.
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
海南医学院中医学院,海南海口 570216海南医学院第一附属医院放射科,海南海口 570102海南医学院衰老与肿瘤国际研究中心,海南海口 570216黑龙江省中医药科学院,黑龙江哈尔滨 150036海南省人民医院风湿病免疫科,海南海口 570311
临床医学
系统性红斑狼疮内皮型一氧化氮合酶单核苷酸多态性
systemic lupus erythematosusendothelial nitric oxide synthasesingle nucleotide polymorphism
《解放军医学杂志》 2024 (009)
986-991 / 6
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);海南省科技厅重点研发项目(ZDYF2022SHFZ078);海南省研究生创新科研课题(Qhys2022-301)
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