@article{6afe467993e9415ba5b47e554a4b1a5c,
title = "Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data",
abstract = "Amyotrophic lateral sclerosis (ALS), a neurodegenerative disease of motor neurons, is a complex genetic disease with heritabilityof 60%. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important, in addition to the known risk factors, male sex and increasing age. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. We find that longer telomeres are associated with ALS and specific phenotypic patterns of disease expression. We see the same pattern of telomere elongation in ALS in brain tissue. The association of longer telomeres with apparently sporadic ALS was also seen in people with familial ALS, supporting the notion that sporadic and familial ALS are not mutually exclusive categories but rather a spectrum.",
keywords = "Amyotrophic Lateral Sclerosis (ALS), Telomere, genetics, Whole genome sequence (WGS, Genomics, Big Data, bioinforamtics",
author = "{Al Khleifat}, Ahmad and Alfredo Iacoangeli and Ashley Jones and {van Vugt}, Joke and Aleksey Shatunov and Matthieu Moisse and Aleksey Shatunov and Zwamborn, {Ramona A.J.} and {van der Spek}, Rick and Johnathan Cooper-Knock and Simon Topp and {van Rheenen}, Wouter and Kenna, {Brendan J} and {van Eijk}, {Kristel R.} and Kenna, {Kevin P} and Byrne, {Ross P.} and {L{\'o}pez Alonso}, Victoria and Sarah Opie-Martin and Atay Vural and Yolanda Gonz{\'a}lez and Markus Weber and Bradley Smith and Isabella Fogh and Vincenzo Silani and Morrison, {Karen E.} and Richard Dobson and {van Es}, {Michael A.} and McLaughlin, {Russell L.} and Adriano Chio and Philippe Corcia and {de Carvalho}, Mamede and Marc Gotkine and Panades, {Monica P.} and Mora, {Jesus S} and Shaw, {Pamela J.} and Landers, {John E.} and Glass, {Jonathan D.} and Christopher Shaw and Ba{\c s}ak, {A. Nazli} and Orla Hardiman and Wim Robberecht and {Van Damme}, Philip and {van den Berg}, Leonard and Jan Veldink and Ammar Al-Chalabi",
year = "2022",
month = nov,
day = "15",
language = "English",
journal = "Frontiers in cellular neuroscience",
issn = "1662-5102",
publisher = "Frontiers Media S.A.",
}