对类风湿性关节炎风险的基因-呼吸系统疾病相互作用
Vanessa L Kronzer1, Keigo Hayashi2, Cynthia S Crowson3
1Division of Rheumatology, Mayo Clinic, Rochester, MN, USA.
Seminars in arthritis and rheumatism
|August 18, 2023
概括
遗传和呼吸系统因素相互作用,增加了类风湿性关节炎 (RA) 风险. 具有HLA遗传风险评分的间歇性肺病和具有MUC5B变异的喘,对RA发展产生了协同作用.
科学领域:
- 类风湿病学 类风湿病学
- 遗传学 遗传学 是一个
- 肺部病理学 肺部病理学
背景情况:
- 类风湿性关节炎 (RA) 是一种复杂的自身免疫性疾病,具有已知的遗传和环境风险因素.
- 在RA的发病过程中,遗传倾向和呼吸系统疾病之间的相互作用需要进一步阐明.
研究的目的:
- 研究基因-呼吸道疾病相互作用,从而增加患类风湿性关节炎的风险.
- 为了确定特定的遗传变异和呼吸系统疾病,协同增加RA易感性.
主要方法:
- 通过使用Mass General Brigham生物库进行了病例对照研究,将RA病例与对照进行了匹配.
- 遗传风险分数 (GRS) 对于RA和MUC5B促进体变异被评估与呼吸道诊断一起.
- 条件后勤回归模型用于计算RA风险的几率比率 (OR) 和可归因比例 (AP).
主要成果:
- 总体和人类白细胞抗原 (HLA) GRS的升高与RA风险增加有关.
- 间歇性肺病 (ILD) 和HLA GRS之间的协同相互作用显著增加了RA风险.
- 喘和MUC5B促销器变体表现出协同作用,特别是对于血清阳性RA.
结论:
- 观察到ILD和HLA GRS之间,以及喘和MUC5B促进体变体之间,与RA风险相关的协同相互作用.
- 这些已识别的相互作用为RA预防策略和有针对性的查工作提供了潜在的途径.
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