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La asociación del gen ADAM33 con el asma y la hipersensibilidad bronquial
Paul Van Eerdewegh1, Randall D Little, Josée Dupuis
1Genome Therapeutics Corporation, 100 Beaver St, Waltham, Massachusetts 02453, USA.
Nature
|July 12, 2002
Resumen
Los factores genéticos contribuyen significativamente al desarrollo del asma. Este estudio identificó un gen específico, ADAM33, en el cromosoma 20p13 fuertemente asociado con el asma y la hipersensibilidad bronquial en familias caucásicas.
Área de la Ciencia:
- Genética La genética.
- Medicina de las vías respiratorias.
- Biología Molecular Biología Molecular
Sus antecedentes:
- El asma es una condición respiratoria prevalente influenciada por factores ambientales y genéticos.
- Estudios previos de vinculación han implicado numerosas regiones genómicas en la susceptibilidad al asma.
- Los estudios de gemelos y familias sugieren un fuerte componente genético.
Objetivo del estudio:
- Para identificar genes específicos asociados con la susceptibilidad al asma.
- Para investigar las bases genéticas de la hipersensibilidad bronquial.
- Para explorar el papel de ADAM33 en la patogénesis del asma.
Principales métodos:
- Escaneo de todo el genoma en 460 familias caucásicas.
- Análisis de vinculación para identificar regiones genómicas asociadas.
- Estudios de asociación que incluyen casos y controles, desequilibrio de transmisión y análisis de haplotipos de polimorfismos en 23 genes.
- La clonación posicional para identificar los genes candidatos.
Principales resultados:
- Se identificó un locus significativo de susceptibilidad al asma en el cromosoma 20p13 (LOD 2.94).
- El mismo locus mostró un fuerte vínculo con la hipersensibilidad bronquial (LOD 3.93).
- Se encontró que el gen ADAM33 está significativamente asociado con el asma (P = 0,04 - 0,000003).
Conclusiones:
- ADAM33 es un gen de susceptibilidad al asma.
- La identificación de ADAM33 proporciona información sobre la patogénesis del asma.
- Una caracterización adicional de ADAM33 puede aclarar la historia natural del asma.
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