摘要
目的探讨核苷酸结合寡聚化结构域样受体蛋白3(NLRP3)基因启动子区域-30位点单核苷酸多态性(SNP)(rs3738448)G/T与扩张型心肌病(DCM)之间的关系及其相关的危险因素。方法采用病例-对照研究方法,收集137例DCM患者和140例健康对照者。应用聚合酶链反应-限制性内切酶片段长度多态性技术结合DNA测序后的序列比对进行数据统计。运用Hardy-Weinberg平衡检验后,应用χ^(2)检验进行相关分析。利用logistic回归对多种危险因素以及该SNP位点与DCM发病进行关联性分析。利用SNPinfo数据库对该SNP影响的转录因子进行预测并分析。结果该SNP位点共检测出GG、GT两种基因型,其基因型分布均符合Hardy-Weinberg平衡(P>0.05),同时在DCM组与对照组间差异有统计学意义(P<0.05)。多因素logistic回归分析显示:平均动脉压、C-反应蛋白、B型脑钠肽是DCM发病的独立危险因素(均P<0.05)。-30(rs3738448)G/T基因型为GT的人群DCM发病率是基因型为GG组的2.243倍(95%CI:1.043~4.827,P<0.05)。在显性、隐性和加性3种不同遗传模式下进行logistic回归分析发现,该SNP显性遗传时与DCM的发生有相关性(OR=0.44,AIC=370.4,BIC=381.3,P<0.05)。结论NLRP3基因启动子区-30(rs3738448)G/T位点与DCM发病有相关性,同时为研究NLRP3基因启动子区多态性提供了群体遗传学资料。
Objective To investigate the relationship between NOD-like receptor protein 3(NLRP3)gene promoter region-30 single nucleotide polymorphism(SNP)(rs3738448)G/T and dilated cardiomyopathy(DCM)and its related risk factors.Methods A case-control study method was used to collect 137 patients and 140 healthy controls;polymerase chain reaction-restriction endonuclease fragment length polymorphism technology combined with sequence alignment after DNA sequencing was used for data statistics;After Hardy-Weinberg balance test,theχ^(2) test was used for correlation analysis;logistic regression was used to analyze the correlation between multiple risk factors and the SNP site and the incidence of DCM;SNPinfo database was used to predict and analyze the transcription factors affected by the SNP.Results A total of GG and GT genotypes were detected at this SNP locus,and their genotype distributions were in line with Hardy-Weinberg equilibrium(P>0.05).At the same time,the difference between the DCM group and the control group was significant(P<0.05).Multivariate logistic regression analysis indicated that mean arterial pressure,C-reactive protein and B-type brain natriuretic peptide were independent risk factors for the onset of DCM(all P<0.05).The incidence of DCM in-30(RS3738448)G/T genotype GT group was 2.243 times higher than that in GG group(95%CI:1.043-4.827,P<0.05).Logistic regression analysis under dominant,recessive and additive genetic models showed that there was a correlation between the dominant inheritance of SNP and the occurrence of DCM(OR=0.44,AIC=370.4,BIC=381.3,P<0.05).Conclusions The-30(rs3738448)G/T SNP in the promoter region of the NLRP3 gene is associated with the pathogenesis of DCM,and provides population genetic data for the study of polymorphisms in the promoter region of NLRP3 gene.
作者
高爽
周瑜
孙树印
任雪雷
王本立
韩翔宇
Gao Shuang;Zhou Yu;Sun Shuyin;Ren Xuelei;Wang Benli;Han Xiangyu(Department of Clinical Medicine,Jining Medical University,Jining 272000,China;Department of Emergency,Jining First People′s Hospital,Jining 272011,China)
出处
《中国医师杂志》
CAS
2022年第8期1179-1183,共5页
Journal of Chinese Physician
基金
山东省医药卫生科技发展计划(202003010564)
济宁市重点研发计划项目(2021YXNS016)。
关键词
心肌病
扩张型
NOD样受体蛋白3
多态性
单核苷酸
Cardiomyopathy,dilated
NOD-like receptor protein 3
Polymorphism,single nucleotide
