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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Enrichment of Bruch's Membrane from Human Donor Eyes
10:22

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Published on: November 15, 2015

El polimorfismo del factor de complemento H en la degeneración macular relacionada con la edad.

Robert J Klein1, Caroline Zeiss, Emily Y Chew

  • 1Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.

Science (New York, N.Y.)
|March 12, 2005
PubMed
Resumen

Una variante común en el gen del factor H del complemento (CFH) se asocia fuertemente con la degeneración macular relacionada con la edad (AMD). Las personas con dos copias del alelo de riesgo tienen una probabilidad 7.4 veces mayor de desarrollar DMAE.

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Área de la Ciencia:

  • Genética La genética.
  • Oftalmología Oftalmología.
  • Biología Molecular Biología Molecular

Sus antecedentes:

  • La degeneración macular relacionada con la edad (DMAE) es una de las principales causas de pérdida de visión en los adultos mayores.
  • Los factores genéticos están implicados en la patogénesis de la DMAE, lo que requiere la identificación de las variantes de riesgo.

Objetivo del estudio:

  • Para llevar a cabo una pantalla de todo el genoma para identificar polimorfismos genéticos asociados con la DMAE.
  • Para identificar variantes específicas dentro de los genes que confieren riesgo para el desarrollo de DMAE.

Principales métodos:

  • Genotipización de todo el genoma de 116.204 polimorfismos de un solo nucleótido (SNPs) en 96 casos de AMD y 50 controles.
  • Análisis de asociación para identificar SNPs significativamente relacionados con el estado de la DMAE.
  • La re-secuenciación para caracterizar la variante de riesgo identificada y sus efectos a nivel de proteínas.

Principales resultados:

  • Una variante intrónica común en el gen del factor H del complemento (CFH) mostró una fuerte asociación con la DMAE (P < 10(-7).
  • La homocigosidad para el alelo de riesgo aumentó la probabilidad de DMAE en 7.4 veces.
  • Un polimorfismo relacionado resultó en un cambio de tirosina a histidina en el aminoácido 402 en la proteína CFH, una región involucrada en la unión de la heparina y la proteína C-reactiva.

Conclusiones:

  • La variante del gen CFH identificada es un factor de riesgo genético significativo para la degeneración macular relacionada con la edad.
  • El polimorfismo CFH Y402H puede contribuir a la patogénesis de la DMAE a través de interacciones proteicas alteradas.
  • Este hallazgo refuerza el papel del sistema del complemento en la DMAE y destaca la importancia del gen CFH.