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多种免疫介导的炎症性疾病和与年龄有关的黄斑退化之间的遗传因果关系的证据:一个无变和多变的门德尔随机化研究

Fuhui Sha^1,2, Hongmei Li^1,2, Longyao Zhang^1,2

¹The First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China.

Ophthalmology and therapy

|February 5, 2024

概括

门德尔的随机化揭示了像克罗恩病,类风湿性关节炎和1型糖尿病这样的免疫媒介性炎症性疾病 (IMIDs) 会增加与年龄相关的黄斑变性 (AMD) 风险. 多发性硬化可能会提供对AMD的保护.

科学领域:

眼科和遗传学眼科和遗传学
免疫学和流行病学

背景情况:

全球人口老龄化正在增加与年龄相关的黄斑变性 (AMD) 的负担.
免疫媒介性炎症性疾病 (IMIDs) 被怀疑是AMD风险的贡献者,但由于混因素,因果关系尚不清楚.

研究的目的:

使用孟德尔随机化 (MR) 方法调查IMIDs和AMD之间的潜在因果关系.
为了减轻混因素,并为AMD的临床预防和治疗策略提供证据.

主要方法:

使用的全基因组关联研究 (GWAS) 总结统计数据和FinnGen联盟对IMID和AMD的数据.
采用了各种孟德尔随机化分析,包括反变量加权 (IVW),加权中位数,MR-Egger和多变量MR (MVMR).
进行敏感性分析以评估型和异质性.

主要成果:

门德尔随机化表明,克罗恩病 (CD),类风湿性关节炎 (RA) 和1型糖尿病 (T1D) 与增长的AMD风险有关.
多发性硬化症 (MS) 显示出对AMD的潜在保护性关联.
结果在多种MR分析方法和MVMR方法中一致.

结论:

来自MR的遗传证据支持特定IMID和AMD之间的因果关系.
CD,RA和T1D被确定为AMD的危险因素.
多种类型的MS可能会对AMD的发展产生保护作用.

关键词:

与年龄有关的黄斑变性.免疫介导的炎症性疾病.门德尔的随机化

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