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La arquitectura genética y la evolución del esqueleto humano
Eucharist Kun1, Emily M Javan1, Olivia Smith1
1Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Science (New York, N.Y.)
|July 20, 2023
Resumen
Los investigadores identificaron factores genéticos que influyen en las proporciones del esqueleto humano, revelando vínculos entre las proporciones de las extremidades y la osteoartritis. Estos loci genéticos se encuentran exclusivamente en regiones asociadas con la evolución humana y la divergencia de los simios.
Área de la Ciencia:
- La genética humana
- La bioinformática
- Biología evolutiva
- Biología esquelética
Sus antecedentes:
- Los fundamentos genéticos de las proporciones esqueléticas humanas (SP) no se comprenden bien, a pesar de su importancia para el bipedalismo.
- Las investigaciones anteriores no han caracterizado exhaustivamente la arquitectura genética de diversas mediciones esqueléticas.
Objetivo del estudio:
- Identificar los loci genéticos asociados con un conjunto completo de proporciones esqueléticas (SP) utilizando el aprendizaje profundo.
- Investigar las relaciones genéticas entre los diferentes tipos de SP (extremidad, anchura, torso).
- Explorar el significado evolutivo y la relevancia patógena de los loci de SP identificados.
Principales métodos:
- Aplicó modelos de aprendizaje profundo para analizar 31.221 rayos X del Biobanco del Reino Unido para extraer SP detallados.
- Se han realizado estudios de asociación de todo el genoma (GWAS, por sus siglas en inglés) para identificar los loci genéticos vinculados a las SP.
- Modelado de ecuaciones estructurales y análisis de puntuación poligénica para examinar correlaciones genéticas y asociaciones de enfermedades.
Principales resultados:
- Se han identificado 145 loci genéticos independientes asociados con SP.
- Las proporciones de las extremidades mostraron una fuerte correlación genética, independiente de las proporciones de ancho y torso.
- Se relacionaron loci SP específicos con el riesgo de osteoartritis en las caderas y las rodillas.
- Los loci asociados a SP se enriquecieron en regiones aceleradas humanas y elementos reguladores específicos de primates.
Conclusiones:
- Este estudio revela las principales variantes genéticas que influyen en la forma y las proporciones del esqueleto humano.
- Los factores genéticos para los SP están vinculados a cambios evolutivos que distinguen a los humanos de otros simios.
- Las asociaciones genéticas identificadas proporcionan información sobre la patogénesis de afecciones esqueléticas como la osteoartritis.
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