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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Mapeo genómico de los loci humanos para la hipertensión esencial
Mark Caulfield1, Patricia Munroe, Janine Pembroke
1Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London, Queen Mary's School of Medicine, London, UK. m.j.caulfield@qmul.ac.uk
Lancet (London, England)
|June 27, 2003
Resumen
El análisis genético de la hipertensión esencial identificó un lugar clave en el cromosoma 6q, lo que sugiere que algunos genes contribuyen a esta enfermedad cardiovascular común. Otras investigaciones pueden utilizar la clonación posicional para encontrar estos genes de susceptibilidad a la hipertensión.
Área de la Ciencia:
- Genética La genética.
- Enfermedades cardiovasculares Enfermedad cardiovascular Enfermedad cardiovascular Enfermedad cardiovascular Enfermedad cardiovascular
- Fisiología Humana Fisiología Humana.
Sus antecedentes:
- La hipertensión esencial contribuye significativamente a las enfermedades cardiovasculares globales.
- La identificación de factores genéticos para la hipertensión puede revelar nuevos mecanismos fisiopatológicos y objetivos terapéuticos.
- El estudio BRITish Genetics of HyperTension (BRIGHT) del Consejo de Investigación Médica tiene como objetivo encontrar genes que predisponen a la hipertensión esencial.
Objetivo del estudio:
- Para llevar a cabo una exploración de todo el genoma para identificar genes de susceptibilidad a la hipertensión esencial.
- Para analizar los factores genéticos que contribuyen a la hipertensión en una gran población europea blanca.
Principales métodos:
- Fenotipado 2010 afectó a pares de hermanos de 1599 familias hipertensas.
- Realizó una exploración de todo el genoma de 10 centimorgan.
- Se analizaron los datos genotípicos utilizando enlaces no paramétricos y se calcularon las puntuaciones de lod para evaluar el apoyo de los enlaces.
Principales resultados:
- Se identificó un locus de enlace principal en el cromosoma 6q con importancia para todo el genoma (puntuación de logaritmo 3.21, p=0.042).
- Tres loci adicionales (2q, 5q, 9q) mostraron significancia en todo el genoma (p=0,017) en el análisis de conteo de locus.
- Estos hallazgos sugieren una base oligogénica para la hipertensión esencial.
Conclusiones:
- La hipertensión esencial humana parece tener un componente oligogénico, posiblemente influenciado por efectos genéticos adicionales menores.
- Varios genes identificados pueden ser susceptibles a las estrategias de clonación posicional para una mayor investigación.
- Esta investigación proporciona información sobre la arquitectura genética de la hipertensión esencial.
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