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精确诊断APOL1脏疾病与p.N264K M1保护变体的精确诊断

Elena Martinelli¹, Juntao Ke¹, Atlas Khan¹

¹Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.

JAMA network open

|March 11, 2026

概括

APOL1 M1变种提供了对APOL1相关的脏疾病的保护,如焦点细分质硬化症 (FSGS) 和慢性脏病 (CKD). 具有高风险APOL1基因型和M1变异的个体应评估其病的其他原因.

科学领域:

腎臟病學 (nephrology) 是一種醫學.
遗传学遗传学是一个
流行病学流行病学

背景情况:

APOL1基因是慢性病 (CKD) 的重要危险因素,特别是在非洲血统的人群中.
APOL1的M1 (p.N264K) 变种已被证明可以预防G2相关的焦点细分结肠硬化 (FSGS) 和CKD.
在诊断脏疾病时,M1变异状态的临床实用性仍然不清楚.

研究的目的:

确定M1变异是否可以在具有高风险 (HR) APOL1基因型和至少一个G2等位基因的患者中区分APOL1相关的CKD与非APOL1CKD.
调查M1变种是否独立地保护具有低风险 (LR) APOL1基因型的个体免受FSGS和CKD的感染.

主要方法:

一项回顾性病例对照研究使用来自第三级护理医院和大型基于人口的生物库 (英国生物库,eMERGE-III,我们所有人) 的数据进行.
该研究包括超过107,000名被诊断患有FSGS,类固醇耐药脏综合征 (SRNS),CKD或没有脏疾病的个人.
确定M1变体 (p.N264K) 的存在是从外体或基因组测序数据中确定的,并使用几率比率分析其与病状况的关联.

主要成果:

在APOL1-HR组中,M1变种与对FSGS或SRNS的保护显著相关 (OR,0.20;P = 3.69 × 10-3).
在具有APOL1-HR基因型和CKD的个体中,M1变异在那些CKD不归因于FSGS或SRNS的人中更为频繁.
在几乎所有APOL1-HR-M1病例中,医疗记录和活检检查表明了其他非APOL1原因的CKD. 在具有APOL1-LR基因型的个体中,没有发现M1的保护性关联.

结论:

APOL1 M1 变种作为一个重要的基因修饰剂,为APOL1相关的脏疾病提供保护.
对于患有CKD,APOL1-HR基因型和M1变异型的患者,需要进一步评估CKD的其他可能可治疗的原因.

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