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Un alelo de COL9A2 asociado con la enfermedad del disco intervertebral
S Annunen1, P Paassilta, J Lohiniva
1Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, 90220 Oulu, Finland.
Science (New York, N.Y.)
|July 20, 1999
Resumen
Los factores genéticos contribuyen a la enfermedad del disco intervertebral. Se identificó una variación del gen COL9A2 en los pacientes, lo que sugiere su papel en el desarrollo de este trastorno musculoesquelético común.
Área de la Ciencia:
- Genética La genética.
- Trastornos del sistema musculoesquelético
- Biología Molecular Biología Molecular
Sus antecedentes:
- La enfermedad del disco intervertebral (IVDD) es una dolencia musculoesquelética prevalente.
- Los factores ambientales y antropométricos son contribuyentes conocidos.
- La evidencia emergente destaca el papel de la predisposición genética en el IVDD.
Objetivo del estudio:
- Para investigar la posible contribución genética del gen COL9A2 a la enfermedad del disco intervertebral.
- Para identificar variaciones de secuencia específicas en COL9A2 asociadas con IVDD.
Principales métodos:
- Cribado del gen COL9A2 para detectar variaciones de secuencia en individuos diagnosticados con IVDD.
- Análisis de casos y controles comparando frecuencias de variantes entre pacientes y controles sanos.
- Estudios basados en la familia que incluyen análisis de vinculación y análisis de desequilibrio de vinculación para confirmar la asociación genética.
Principales resultados:
- Se identificó una variación específica en la secuencia del gen COL9A2 en 6 de 157 individuos con IVDD, pero no en 174 controles.
- Esta variación, que resulta en un cambio de codón de glutamina a triptófano, mostró una fuerte cosegregación con el fenotipo de la enfermedad en cuatro familias estudiadas.
- El análisis de vinculación arrojó una puntuación lod de 4.5, y el análisis de desequilibrio de vinculación condicional proporcionó una puntuación lod adicional de 7.1, que apoya la vinculación genética.
Conclusiones:
- La variación del gen COL9A2 identificada es un supuesto factor causante de la enfermedad de la enfermedad del disco intervertebral.
- El análisis genético proporciona una fuerte evidencia de la participación de COL9A2 en la etiología de IVDD.
- La investigación adicional sobre el papel de COL9A2 puede ofrecer nuevos conocimientos sobre la patogénesis de IVDD y posibles objetivos terapéuticos.
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