Study of rare variants in genes associated with Alzheimer’s disease in Spanish population (Q3139833)
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Project Q3139833 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Study of rare variants in genes associated with Alzheimer’s disease in Spanish population |
Project Q3139833 in Spain |
Statements
57,500.0 Euro
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115,000.0 Euro
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50.0 percent
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1 January 2017
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31 March 2021
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FUNDACION INSTITUTO DE INVESTIGACION MARQUES DE VALDECILLA (IDIVAL)
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43°27'43.34"N, 3°48'35.89"W
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39075
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Las variantes genéticas raras contribuyen a una fracción aún por determinar de la heredabilidad de la enfermedad de Alzheimer (EA). Al estar situadas en su mayoría en regiones codificantes tienen por lo general un impacto sobre el fenotipo mucho mayor que las variantes comunes; por lo que su potencial traslacional se ha demostrado alto en la EA. Estas variantes son muy específicas de poblaciones concretas y su frecuencia difiere notablemente según el área geográfica. En nuestro país no se han realizado estudios genómicos para abordar este tema en la enfermedad de Alzheimer. Nuestro objetivo es detectar variantes genéticas raras asociadas a la enfermedad de Alzheimer mediante dos métodos complementarios: next generation sequencing y exome chip. Para llevar a cabo este objetivo utilizaremos la gran muestra de nuestro consorcio nacional DEmentia GEnetic Spanish COnsortium (DEGESCO), que engloba una de las mayores colecciones de ADN de patología neurodegenerativa en Europa. Pretendemos por un lado describir las variantes raras más prevalentes en la población española mediante resecuenciación de 29 loci asociados a EA en una muestra de pacientes de EA de inicio precoz. De forma complementaria usaremos un chip de exoma diseñado específicamente para capturar variantes raras típicas de nuestro país que nos permitiría detectar nuevas variantes asociadas a EA en nuestra población. (Spanish)
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Rare genetic variants contribute to a fraction to be determined of the inheritability of Alzheimer’s disease (AD). Being mostly located in coding regions, they usually have a much greater impact on the phenotype than common variants; therefore its translational potential has been shown to be high in EA. These variants are very specific to specific populations and their frequency differs significantly depending on the geographical area. In our country no genomic studies have been conducted to address this issue in Alzheimer’s disease. Our aim is to detect rare genetic variants associated with Alzheimer’s disease by two complementary methods: next generation sequencing and exome chip. To carry out this objective we will use the large sample of our national consortium Dementia Genetic Spanish Consortium (DEGESCO), which includes one of the largest DNA collections of neurodegenerative pathology in Europe. On the one hand, we intend to describe the rare variants most prevalent in the Spanish population by resequencing 29 loci associated with AD in a sample of patients with early onset AD. In addition, we will use an exome chip specifically designed to capture rare variants typical of our country that would allow us to detect new variants associated with EA in our population. (English)
12 October 2021
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Santander
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Identifiers
PI16_01652
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