No association of **PGRN** 3'UTRrs5848 in frontotemporal lobar degeneration

Autor: John Collinge, Peter Paul De Deyn, Sara Rollinson, Julie van der Zee, David M. A. Mann, Kristel Sleegers, Sebastiaan Engelborghs, Christine Van Broeckhoven, Stuart Pickering-Brown, Jonathan D. Rohrer, Simon Mead
Přispěvatelé: Clinical sciences, Neurology
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Oncology
Aging
medicine.medical_specialty
Intercellular Signaling Peptides and Proteins/genetics
Genotype
Polymorphism
Single Nucleotide
Progranulins
Gene Frequency
Polymorphism (computer science)
Internal medicine
mental disorders
medicine
Humans
Dementia
SNP
Genetic Predisposition to Disease
Allele
Risk factor
3' Untranslated Regions
Allele frequency
Alleles
Genetic Association Studies
Medicine(all)
business.industry
General Neuroscience
nutritional and metabolic diseases
Frontotemporal lobar degeneration
medicine.disease
nervous system diseases
3' Untranslated Regions/genetics
Cohort
Intercellular Signaling Peptides and Proteins
Frontotemporal Lobar Degeneration/genetics
Neurology (clinical)
Human medicine
Frontotemporal Lobar Degeneration
Geriatrics and Gerontology
business
Developmental Biology
Zdroj: Neurobiology of aging
ISSN: 0197-4580
Popis: Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has been claimed that homozygosity of the SNP rs5848 located in the 3UTR of progranulin increases risk for FTLD. We have attempted to replicate the association of rs5848 in three independent FTLD cohorts. No association of rs5848 with FTLD was observed in any individual cohort nor was any observed when the data was combined. These data argue that rs5848 is not a risk factor for FTLD.
Databáze: OpenAIRE
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