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Ciencia básica y patogénesis
Liyong Wang1, Wanying Xu2, Maria C Robayo1
1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
Resumen
El linaje europeo muestra interacciones más fuertes del gen APOE, lo que podría explicar un mayor riesgo de Alzheimer. El linaje africano suprime estas interacciones, revelando mecanismos regulatorios específicos del linaje para la enfermedad de Alzheimer.
Área de la Ciencia:
- Genómica; Neurociencia; Epigenética
Sus antecedentes:
- El alelo APOEε4 es un factor de riesgo genético importante para la enfermedad de Alzheimer (EA).
- El tamaño del efecto de APOEε4 varía entre las poblaciones ancestrales, siendo mayor en blancos no hispanos que en afroamericanos.
- El linaje local (LA) alrededor de APOE influye en el riesgo genético y la expresión génica, y el LA europeo (EU) se asocia con un mayor riesgo y expresión que el LA africano (AF).
Objetivo del estudio:
- Investigar la estructura del genoma 3D en el locus APOE en diferentes orígenes ancestrales.
- Examinar cómo las interacciones de cromatina en APOE difieren entre el linaje local europeo y africano.
Principales métodos:
- Se utilizó el análisis de captura Hi-C mejorado (eHiCA) en el córtex frontal y microglía derivada de iPSC (iMGLs).
- Se analizaron muestras de portadores ε4/ε4 con LA homozigota africana (AF) y europea (EU) en APOE.
- Los datos de Hi-C se procesaron utilizando HiCorr y DeepLoop para mejorar el mapeo de interacciones de cromatina.
Principales resultados:
- Se observaron interacciones de cromatina sesgadas por el linaje en el locus APOE en el córtex frontal y iMGLs.
- El LA de ascendencia europea (EU) mostró interacciones de cromatina de largo alcance prominentes (190 kb y 440 kb aguas abajo de APOE) que no se observaron en el LA de ascendencia africana (AF).
- El LA de ascendencia africana mostró interacciones de largo alcance suprimidas, con solo una interacción de corto alcance presente en ambos linajes.
Conclusiones:
- El genoma de la UE muestra interacciones de cromatina más fuertes y numerosas en APOE en comparación con el genoma de AF.
- Estas interacciones se correlacionan con una mayor accesibilidad de la cromatina en el LA de la UE, lo que podría explicar la elevada expresión de APOEε4 en los cerebros de la UE.
- eHiCA identificó interacciones de cromatina sesgadas por el linaje, lo que ofrece información sobre los mecanismos regulatorios de la EA y el panorama regulatorio más amplio de la EA.
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