Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms
Metadatos
Mostrar el registro completo del ítemAutor
Giaccherini, Matteo; Sáinz Pérez, Juan; Sánchez Maldonado, José Manuel; Jurado Chacón, Manuel; Hernández Mohedo, FranciscaEditorial
Nature Publishing Group
Fecha
2020-09-01Referencia bibliográfica
Giaccherini, M., Macauda, A., Sgherza, N., Sainz, J., Gemignani, F., Maldonado, J. M. S., ... & Góra-Tybor, J. (2020). Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms. Blood Cancer Journal, 10(8), 1-7. [DOI: 10.1038/s41408-020-00356-5]
Resumen
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