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A986S polimorfismo del receptor sensible al calcio y las concentraciones de calcio circulante
D E Cole1, V D Peltekova, L A Rubin
1Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada. davidec.cole@utoronto.ca
Lancet (London, England)
|February 19, 1999
Resumen
La variante genética común CASR A986S influye significativamente en los niveles de calcio extracelular. Este polimorfismo genético es un factor clave en la regulación del calcio y puede predisponer a las personas a trastornos óseos y minerales.
Área de la Ciencia:
- Genética La genética.
- La bioquímica es la bioquímica.
- Endocrinología Endocrinología.
Sus antecedentes:
- La concentración de calcio extracelular está regulada por la hormona paratiroidea a través del receptor sensible al calcio (CASR).
- Las mutaciones en el gen CASR afectan a la homeostasis del calcio, lo que lleva a hipercalcemia o hipocalcemia familiar.
- El común polimorfismo CASR A986S es un potencial determinante genético de los niveles de calcio.
Objetivo del estudio:
- Para investigar la asociación entre el polimorfismo CASR A986S y la concentración de calcio extracelular.
- Identificar los predictores genéticos y bioquímicos de los niveles séricos de calcio.
Principales métodos:
- Genotipización de la variante CASR A986S en 163 mujeres sanas.
- Análisis del calcio sérico, la albúmina, el fosfato, la hormona paratiroidea y el pH.
- Medición del calcio ionizado en sangre entera de un subconjunto de 84 mujeres.
Principales resultados:
- El genotipo A986S se asoció de forma independiente con los niveles séricos de calcio después de ajustar por la albúmina y otros factores bioquímicos.
- La albúmina, el fosfato, la hormona paratiroidea, el pH y el genotipo A986S explicaron colectivamente el 74% de la variación en el calcio sérico.
- El calcio ionizado en sangre entera en ayunas mostró una asociación positiva con la variante 986S.
Conclusiones:
- El polimorfismo CASR A986S tiene un impacto significativo en la regulación extracelular del calcio.
- Esta variante genética común es candidata a la predisposición a trastornos relacionados con el desequilibrio del calcio y el metabolismo óseo/mineral.
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