TERT rs2736100 genotypes are associated with differential risk of myeloproliferative neoplasms in Swedish and Chinese male patient populationsReportar como inadecuado

TERT rs2736100 genotypes are associated with differential risk of myeloproliferative neoplasms in Swedish and Chinese male patient populations - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Annals of Hematology

, Volume 95, Issue 11, pp 1825–1832

First Online: 25 August 2016Received: 02 August 2016Accepted: 03 August 2016DOI: 10.1007-s00277-016-2787-7

Cite this article as: Dahlström, J., Liu, T., Yuan, X. et al. Ann Hematol 2016 95: 1825. doi:10.1007-s00277-016-2787-7


The telomerase reverse transcriptase TERT gene rs2736100 C allele has recently been shown to be associated with an increased risk for myeloproliferative neoplasms MPNs among Caucasians. However, it is unknown if this association is present in other ethnical populations and whether rs2736100 allele frequencies mirror the incidence of MPNs in a population. Here we genotyped TERT rs2736100 variants in 126 Swedish and 101 Chinese MPN patients and their age-, sex-, and ethnically-matched healthy controls. Healthy Chinese adults had a higher frequency of the A allele and lower frequencies of the C allele compared to Swedish counterparts 57.4 vs 47.0 % for A, 42.6 vs 53.0 % for C, P = 0.006. Both Swedish and Chinese patients harbored significantly higher C allele frequency than their controls 62.7 vs 53.0 % and 57.4 vs 42.6 % for Swedish and Chinese, respectively, P = 0.004. Swedes and Chinese bearing the CC genotype had a significantly increased risk of MPN compared to AA carriers OR = 2.47; 95 % CI: 1.33–4.57, P = 0.003, for Swedes, and OR = 3.45; 95 % CI: 1.52–7.85, P = 0.005, for Chinese. Further analyses showed that rs2736100 CC was associated with robustly enhanced risk in males only CC vs AA, OR = 5.11; 95 % CI: 2.19–11.92, P < 0.0001. The CC-carrying MPN patients exhibited significantly higher TERT expression than patients with the AC genotype. Collectively, the rs2736100 C is a risk allele for MPNs in Swedish and Chinese males, and the lower incidence of MPNs in the Chinese population is correlated with a lower rs2736100 C risk allele frequency.

KeywordsTelomerase Myeloproliferative neoplasms Cancer genetics Single nucleotide polymorphism TERT Jenny Dahlström and Tiantian Liu contributed equally to this work.

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Autor: Jenny Dahlström - Tiantian Liu - Xiaotian Yuan - Leonie Saft - Mehran Ghaderi - Ya Bin Wei - Catharina Lavebratt - Ping 

Fuente: https://link.springer.com/

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