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在类风湿性关节炎中解读PADI4误解变异L117M的致病性:一个集成的in silico和基因表达研究
P Santhiya1, S Barani Tharan1, K Govindaraju1
1Centre for Ocean Research, Sathyabama Institute of Science and Technology, Chennai 600 119, Tamil Nadu, India.
International journal of biological macromolecules
|June 25, 2025
概括
PADI4基因中的单核酸多态,特别是rs1748033,与类风湿性关节炎 (RA) 易感性有关. 这项研究证实了PADI4的存在.
科学领域:
- 免疫遗传学 免疫遗传学
- 分子生物学分子生物学
- 计算生物学 计算生物学
背景情况:
- 风湿性关节炎 (RA) 是一种自身免疫性疾病,具有复杂的遗传和环境因素.
- PADI4基因,编码达尔基因脱敏酶4型,涉及到RA的发病因子通过citrullination.
- PADI4误解突变rs1748033与RA易感性增加有关.
研究的目的:
- 研究PADI4 rs1748033突变在类风湿性关节炎中的致病作用.
- 分析 rs1748033 (L117M) 变种的结构和功能后果.
- 在风湿性关节炎患者中评估PADI4基因表达.
主要方法:
- 使用DisGeNET,开放目标遗传学,GeneCards,gnomAD和Ensembl.使用集成的计算分析.
- 使用PredictSNP和分子动力学模拟 (MDS) 与基于PCA的自由能量景观 (FEL) 分析进行功能效应预测.
- 在RA患者样本中通过实时定量PCR (RT-qPCR) 进行PADI4表达分析.
主要成果:
- 在PADI4中确定了非同义的SNP,重点是rs1748033 (L117M).
- 分子动力学模拟揭示了突变PADI4结构中的显著构造变化.
- 在RA患者中,RT-qPCR在野生类型和突变形式中显示出高PADI4表达.
结论:
- 在类风湿性关节炎中,PADI4 rs1748033突变具有功能相关性.
- 结构和表达分析支持PADI4在RA病变发生过程中的作用.
- PADI4 代表了类风湿性关节炎治疗的潜在治疗标.
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