Genetically predicted telomere length and its relationship with neurodegenerative diseases and life expectancy

Telomere length (TL) is a biomarker of biological aging. Shorter telomeres have been associated with mortality and increased rates of age-related diseases. However, observational studies are unable to conclude whether TL is causally associated with those outcomes. Mendelian randomization (MR) was de...

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Detalles Bibliográficos
Autores: Rodríguez-Fernández, Blanca, Gispert, Juan Domingo, Guigó Serra, Roderic, Navarro, Arcadi, Vilor Tejedor, Natàlia, 1988-, Crous-Bou, Marta
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/54048
Acceso en línea:http://hdl.handle.net/10230/54048
http://dx.doi.org/10.1016/j.csbj.2022.08.006
Access Level:acceso abierto
Palabra clave:AD, Alzheimer’s disease
ALS, Amyotrophic lateral sclerosis
Alzheimer’s disease
CI, Confidence Interval
FTD, Frontotemporal dementia
GWAS, Genome-wide association study
IV, Instrumental Variable
IVW, Inverse-Variance Weighted
LRRC34, Leucine Rich Repeat Containing 34
Life expectancy
MR, Mendelian Randomization
MR-PRESSO, MR-Pleiotropy RESidual Sum and Outlier
Mendelian randomization
Neurodegenerative diseases
OR, Odds ratio
PD, Parkinson’s disease
PSP, Progressive Supranuclear Palsy
SE, Standard Error
SNP, Single Nucleotide Polymorphism
TL, Telomere length
Telomere length
Descripción
Sumario:Telomere length (TL) is a biomarker of biological aging. Shorter telomeres have been associated with mortality and increased rates of age-related diseases. However, observational studies are unable to conclude whether TL is causally associated with those outcomes. Mendelian randomization (MR) was developed for assessing causality using genetic variants in epidemiological research. The objective of this study was to test the potential causal role of TL in neurodegenerative disorders and life expectancy through MR analysis. Summary level data were extracted from the most recent genome-wide association studies for TL, Alzheimer's disease (AD), Parkinson's disease, Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Progressive Supranuclear Palsy and life expectancy. MR estimates revealed that longer telomeres inferred a protective effect on risk of AD (OR = 0.964; adjusted p-value = 0.039). Moreover, longer telomeres were significantly associated with increased life expectancy (βIVW = 0.011; adjusted p-value = 0.039). Sensitivity analyses suggested evidence for directional pleiotropy in AD analyses. Our results showed that genetically predicted longer TL may increase life expectancy and play a protective causal effect on AD. We did not observe significant causal relationships between longer TL and other neurodegenerative diseases. This suggests that the involvement of TL on specific biological mechanisms might differ between AD and life expectancy, with respect to that in other neurodegenerative diseases. Moreover, the presence of pleiotropy may reflect the complex interplay between TL homeostasis and AD pathophysiology. Further observational studies are needed to confirm these results.