摘要
目的 探索信号转导和转录激活因子-4(STAT4)rs7574865单核苷酸多态性与原发性抗中性粒细胞胞浆抗体相关性血管炎(AAV)的关系。方法 纳入145例AAV患者(AAV组)和216例健康体检者(对照组)并收集患者就诊时是否伴发热、蛋白尿、血尿、咯血症状。采用多重PCR结合高通量测序(MPCR-HTS)进行基因分型;比较2组间、各临床症状亚组间rs7574865基因型、等位基因和不同遗传模型下基因型的分布差异;Logistic回归分析评估基因型与临床症状发生风险的关系。结果 2组间STAT4 rs7574865基因型、等位基因、不同遗传模型下基因型分布差异无统计学意义;不同亚组中基因型、等位基因分布差异均无统计学意义。隐性模型下,血尿组TT基因型分布比例低于无血尿组(P<0.05);Logistic回归分析显示TT基因型与血尿发生风险无关。结论 STAT4 rs7574865单核苷酸多态性与AAV易感性和发热、蛋白尿、血尿、咯血临床症状不相关。
Objective To explore the association of STAT4 rs7574865 single nucleotide polymorphism with antineutrophil cytoplasmic autoantibody associated vasculitides(AAV).Methods A total of 145 patients with AAV(the AAV group) and 216 healthy controls(the control group) were included in this study.Whether the patients were accompanied by fever,proteinuria,hematuria and hemoptysis were collected.Multiplex PCR combined with high-throughput sequencing(MPCR-HTS) was used for genotyping.Genotypes,alleles and genotypes in different genetic models were compared between the two groups and between each clinical symptom subgroup.Logistic regression analysis was used to assess the relationship between genotype and risk of clinical symptoms.Results STAT4 rs7574865 genotype,allele and genotype distribution under different genetic models showed no significant difference between the two groups.There were no significant differences in genotype and allele distribution between different subgroups.In recessive model,the proportion of TT genotypes was lower in the hematuria group than that in the no hematuria group(P <0.05).Logistic regression analysis showed that TT genotype was not associated with the risk of hematuria.Conclusion STAT4 rs7574865 single nucleotide polymorphism was not associated with AAV susceptibility and clinical symptoms of fever,proteinuria,hematuria and hemoptysis.
作者
曹越琦
薛超
CAO Yueqi;XUE Chao(Department of Nephrology and Blood Purification,the Second Affiliated Hospital of Tianjin Medical University,Tianjin 300211,China;Department of Nephrology,the Second Affiliated Hospital of Guangxi Medical University)
出处
《天津医药》
CAS
北大核心
2023年第1期50-54,共5页
Tianjin Medical Journal
基金
国家自然科学基金资助项目(81360117)。
