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线粒体DNA单倍型类群在皮肌炎中的差异表达及意义

The differential expression and significance of mitochondrial DNA haplotype groups in dermatomyositis
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摘要 目的 探讨皮肌炎患者外周血线粒体DNA(mtDNA)的单倍型类群及临床意义。方法 选取2020年1月-2021年12月河北北方学院附属第一医院收治的40例皮肌炎患者作为观察组,另选40名同时期健康体检者作为对照组,收集两组受试者的外周血并抽提mtDNA。分析两组一般资料,利用实时荧光定量PCR技术扩增其线粒体DNA序列,寻找D-loop区中的突变位点以及初步划分单倍型类群,logistic回归分析皮肌炎和单倍型类群关系。使用SPSS 23.0进行统计学分析。结果 两组性别、年龄、免疫功能相比,差异均无统计学意义(P均>0.05);观察组血清mtDNA相对表达量较对照组降低,差异有统计学意义(t=5.121,P<0.001);样本mtDNA单倍型类群分别为单倍型类群A、B、M7和F1;其中,单倍型类群M7可能是皮肌炎的独立危险因子(P=0.003,OR=2.28)。结论mtDNA单倍型类群M7与皮肌炎易感性和发生发展密切相关。 Objective To explore the haplotype groups and clinical significance of mitochondrial DNA(mtDNA)in peripheral blood of patients with dermatomyositis.Methods A total of 40 patients with dermatomyositis admitted to the First Affiliated Hospital of Hebei North University from January 2020 to December 2021 were selected as the observation group,and 40 healthy subjects who underwent physical examinations during the same period were selected as the control group.Peripheral blood was collected from the two groups of subjects and mtDNA was extracted.The general data of the two groups were analyzed,and the mitochondrial DNA sequences were amplified by real⁃time fluorescence quantitative PCR technology to find mutation sites in the D⁃loop region and preliminarily divide haplotype groups.Logistic regression was used to analyze the relationship between dermatomyositis and haplotype groups.SPSS 23.0 was used for statistical analysis.Results There were no statistically significant differences in gender,age,and immune function between the two groups(all P>0.05).The relative expression of serum mtDNA in the observation group was lower than that in the control group,and the difference was statistically significant(t=5.121,P<0.001).The mtDNA haplotype groups of the samples were haplotype groups A,B,M7,and F1;among them,haplotype group M7 might be an independent risk factor for dermatomyositis(P=0.003,OR=2.28).Conclusion mtDNA haplotype group M7 might be closely related to the susceptibility and development of dermatomyositis.
作者 陈雷刚 安国芝 刘源 郑学军 温杰 陆海涛 胡月 杨晓静 CHEN Leigang;AN Guozhi;LIU Yuan;ZHENG Xuejun;WEN Jie;LU Haitao;HU Yue;YANG Xiaojing(Department of Dermatology,the First Affiliated Hospital of Hebei North University,Zhangjiakou,Hebei 075000,China;Department of Dermatology,General Hospital of Tianjin Medical University,Tianjin 300052,China;Department of Rheumatology and Immunology,the First Affiliated Hospital of Hebei North University,Zhangjiakou,Hebei 075000,China;Department of Dermatology,Affiliated Hospital of Chengde Medical College,Chengde,Hebei 067020,China;Department of Dermatology,Shijiazhuang Hospital of Traditional Chinese Medicine,Shijiazhuang,Hebei 050011,China)
出处 《热带医学杂志》 2024年第11期1589-1593,共5页 Journal of Tropical Medicine
基金 河北省卫生健康委科研基金项目重点科技研究计划(20220602) 河北省卫生厅科研基金项目(ZD20140043)。
关键词 线粒体DNA 皮肌炎 单倍型类群 遗传易感性 Mitochondrial DNA Dermatomyositis Haplotype groups Genetic susceptibility
作者简介 陈雷刚(1981-),男,硕士,主治医师,从事皮肤分子生物学研究工作;通信作者:杨晓静,E⁃mail:xiaobenben407@163.com。
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