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Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms.

Authors
  • Jäger, Roland
  • Harutyunyan, Ashot S
  • Rumi, Elisa
  • Pietra, Daniela
  • Berg, Tiina
  • Olcaydu, Damla
  • Houlston, Richard S
  • Cazzola, Mario
  • Kralovics, Robert
Type
Published Article
Journal
American Journal of Hematology
Publisher
Wiley (John Wiley & Sons)
Publication Date
Dec 01, 2014
Volume
89
Issue
12
Pages
1107–1110
Identifiers
DOI: 10.1002/ajh.23842
PMID: 25196853
Source
Medline
License
Unknown

Abstract

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.

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