RT Journal Article
T1 Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms
A1 Giaccherini, Matteo
A1 Macauda, Angelica
A1 Sgherza, Nicola
A1 Sainz, Juan
A1 Gemignani, Federica
A1 Sanchez Maldonado, Josè Manuel
A1 Jurado, Manuel
A1 Tavano, Francesca
A1 Mazur, Grzegorz
A1 Jerez, Andrés
A1 Góra-Tybor, Joanna
A1 Gołos, Aleksandra
A1 Hernández Mohedo, Francisca
A1 Martinez Lopez, Joaquin
A1 Várkonyi, Judit
A1 Spadano, Raffaele
A1 Butrym, Aleksandra
A1 Canzian, Federico
A1 Campa, Daniele
K1 Telomere
K1 Genetic predisposition to disease
K1 Neoplasms
K1 Polymorphism, single nucleotide
K1 Case-control studies
K1 Myeloproliferative neoplasms
K1 Telómero
K1 Predisposición genética a la enfermedad
K1 Neoplasias
K1 Polimorfismo de nucleótido simple
AB Telomere length measured in leukocyte (LTL) has been found to be associated with the risk of developing several cancer types, including myeloproliferative neoplasms (MPNs). LTL is genetically determined by, at least, 11 SNPs previously shown to influence LTL. Their combination in a score has been used as a genetic instrument to measure LTL and evaluate the causative association between LTL and the risk of several cancer types. We tested, for the first time, the "teloscore" in 480 MPN patients and 909 healthy controls in a European multi-center case-control study. We found an increased risk to develop MPNs with longer genetically determined telomeres (OR = 1.82, 95% CI 1.24-2.68, P = 2.21 × 10-3, comparing the highest with the lowest quintile of the teloscore distribution). Analyzing the SNPs individually we confirm the association between TERT-rs2736100-C allele and increased risk of developing MPNs and we report a novel association of the OBFC1-rs9420907-C variant with higher MPN risk (ORallelic = 1.43; 95% CI 1.15-1.77; P = 1.35 × 10-3). Consistently with the results obtained with the teloscore, both risk alleles are also associated with longer LTL. In conclusion, our results suggest that genetically determined longer telomeres could be a risk marker for MPN development.
PB Springer Nature
YR 2020
FD 2020-09-01
LK http://hdl.handle.net/10668/4109
UL http://hdl.handle.net/10668/4109
LA en
NO Giaccherini M, Macauda A, Sgherza N, Sainz J, Gemignani F, Maldonado JMS, et al. Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms. Blood Cancer J. 2020 Sep 1;10(8):89
DS RISalud
RD Apr 12, 2025