首页|L3MBTL3基因多态性与系统性红斑狼疮的相关性研究

L3MBTL3基因多态性与系统性红斑狼疮的相关性研究

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目的:研究L3MBTL3 的基因多态性在人群中的分布,探讨其不同分型与系统性红斑狼疮(systemic lupus erythematosus,SLE)易感性的相关性.方法:选择 2021 年 3 月-2022 年 3 月于上海市奉贤区中心医院就诊的SLE患者 45 例作为SLE组,同期体检人群 45 例作为对照组.收集受试者静脉血,离心后检测临床检验指标,然后提取血细胞基因组DNA,应用Sanger测序对L3MBTL3 基因rs6923819、rs2068957 位点进行基因分型与分析.结果:San-ger测序结果显示,L3MBTL3 基因 rs6923819 和rs2068957 两个SNP位点存在碱基突变情况,rs6923819 位点C等位基因和CC基因型与SLE患病风险存在相关性(P<0.05),携带rs6923819 位点C等位基因或CC基因型的SLE患者的肾炎发病风险升高(P<0.05),而关节炎发病风险降低(P<0.05).结论:L3MBTL3 基因的rs6923819 多态性可能与SLE易感性及其临床表型相关.
Relationship between L3MBTL3 Polymorphism and Systemic Lupus Erythematosus
Objective To study the distribution of L3MBTL3 polymorphisms in the population,and to explore the correlation between different types of L3MBTL3 and susceptibility to systemic lupus erythematosus(SLE).Methods A total of 45 SLE patients treated in Fengxian Central Hospital from March 2021 to March 2022 were selected as the SLE group,and 45 indi-viduals subjected to physical examination during the same period were selected as the control group.The venous blood of the subjects was collected and centrifuged for the determination of clinical test indicators.The genomic DNA was extracted from the blood,and Sanger sequencing of L3MBTL3 was employed for genotyping and analysis of rs6923819 and rs2068957 loci in this gene.Results Sanger sequencing results showed that two single nucleotide polymorphism(SNP)loci of L3MBTL3,rs6923819 and rs2068957,had base mutations,and the C allele and CC genotype of rs6923819 were correlated with the risk of SLE(P<0.05).The SLE patients with rs6923819 of C allele or CC genotype had an increased risk of nephritis(P<0.05)and a decreased risk of arthritis(P<0.05).Conclusion The polymorphism of rs6923819 in L3MBTL3 may be as-sociated with the susceptibility to SLE and the clinical phenotype of SLE.

L3MBTL3Single nucleotide polymorphismSystemic lupus erythematosus

仲宁璇、李静、杨雅淋、冯景、赵卫卫

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安徽理工大学医学院,安徽 淮南 232001

上海交通大学附属第六人民医院南院,上海 201400

临汾市中心医院,山西 临汾 141002

深圳市龙岗区人民医院,广东 深圳 518116

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L3MBTL3 基因多态性 系统性红斑狼疮

上海市奉贤区科委科技发展基金

20211609

2024

湖北医药学院学报
湖北医药学院

湖北医药学院学报

影响因子:0.504
ISSN:1006-9674
年,卷(期):2024.43(1)
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