Journal
AMERICAN JOURNAL OF HEMATOLOGY
Volume 89, Issue 12, Pages 1107-1110Publisher
WILEY
DOI: 10.1002/ajh.23842
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Funding
- Austrian Science Fund [FWF4702-B20, FWF20812-B20]
- Associazione Italiana per la Ricerca sul Cancro
- Italian Ministry of Health [GR-2010-2312855]
- Fondo per gli investimenti della ricerca di base [F11J11000250001]
- Austrian Science Fund (Erwin Schrodinger Fellowship)
- Austrian Science Fund (FWF) [J 3269] Funding Source: researchfish
- Cancer Research UK [15116] Funding Source: researchfish
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The C allele of the rs2736100 single nucleotide polymorphism located in the second intron of the TERT gene has recently been identified as a susceptibility factor for myeloproliferative neoplasms (MPN) in the Icelandic population. Here, we evaluate the role of TERT rs2736100_C in sporadic and familial MPN in the context of the previously identified JAK2 GGCC predisposition haplotype. We have confirmed the TERT rs2736100_C association in a large cohort of Italian sporadic MPN patients. The risk conferred by TERT rs2736100_C is present in all molecular and diagnostic MPN subtypes. TERT rs2736100_C and JAK2 GGCC are independently predisposing to MPN and have an additive effect on disease risk, together explaining a large fraction of the population attributable fraction (PAF=73.06%). We found TERT rs2736100_C significantly enriched (P=0.0090) in familial MPN compared to sporadic MPN, suggesting that low-penetrance variants may be responsible for a substantial part of familial clustering in MPN. Am. J. Hematol. 89:1107-1110, 2014. (c) 2014 Wiley Periodicals, Inc.
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