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La secuenciación del exoma de los aislados finlandeses mejora el poder de asociación de la variante rara
Adam E Locke1,2,3, Karyn Meltz Steinberg2,4, Charleston W K Chiang5,6,7
1Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.
Nature
|August 2, 2019
Resumen
La secuenciación exómica finlandesa identificó 26 nuevos alelos perjudiciales para los rasgos cardiometabólicos cuantitativos, 19 únicos para la población finlandesa. Esto pone de relieve el poder de las poblaciones aisladas para los estudios genéticos.
Área de la Ciencia:
- Genética y genómica
- Enfermedades cardiovasculares y metabólicas
Sus antecedentes:
- Los estudios de secuenciación de exomas a menudo carecen de poder para detectar alelos raros y de gran efecto que influyen en rasgos complejos.
- Las poblaciones aisladas, como las del norte / este de Finlandia, exhiben frecuencias más altas de alelos dañinos debido a su historia demográfica única.
Objetivo del estudio:
- Investigar el papel de las variantes de codificación raras en los rasgos cardiometabólicos cuantitativos utilizando la secuenciación de exomas en una cohorte finlandesa.
- Identificar nuevos alelos nocivos y evaluar su frecuencia y distribución en la población finlandesa.
Principales métodos:
- Se realizaron estudios de asociación en todo el exoma sobre 64 rasgos cardiometabólicos cuantitativos en casi 20.000 individuos del norte y el este de Finlandia.
- Se analizó la frecuencia y la distribución geográfica de los alelos nocivos identificados en comparación con otras poblaciones europeas.
Principales resultados:
- Se identificaron 26 alelos deletéreos recién asociados en 64 rasgos cuantitativos.
- Diecinueve de estos alelos se enriquecieron significativamente en la población finlandesa (más de 20 veces mayor frecuencia) y mostraron agrupación geográfica.
- Estos hallazgos sugieren que los aislamientos de la población finlandesa son potentes para descubrir variantes raras que afectan a rasgos complejos.
Conclusiones:
- La historia genética única de la población finlandesa facilita la identificación de alelos dañinos raros que afectan los rasgos cardiometabólicos.
- La secuenciación del exoma en poblaciones aisladas ofrece un mayor poder estadístico para el descubrimiento de variantes en comparación con poblaciones más amplias y diversas.
- Los estudios genéticos futuros en aislamientos similares podrían proporcionar información significativa sobre la genética de enfermedades complejas.
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