Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms. Issue 12 (26th September 2014)

• Record Type: Journal Article
• Authors: Jäger, Roland; Harutyunyan, Ashot S.; Rumi, Elisa; Pietra, Daniela; Berg, Tiina; Olcaydu, Damla; Houlston, Richard S.; Cazzola, Mario; Kralovics, Robert
• Is Part Of: American journal of hematology. Volume 89:Issue 12(2014:Dec.)
• Page Start: 1107
• Page End: 1110
• Publication Date: 2014-09-26
• Subjects: Hematology -- Periodicals; 616.15
• DOI: 10.1002/ajh.23842
• Languages: English
• ISSNs: 0361-8609

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The C allele of the rs2736100 single nucleotide polymorphism located in the second intron of the <italic>TERT</italic> gene has recently been identified as a susceptibility factor for myeloproliferative neoplasms (MPN) in the Icelandic population. Here, we evaluate the role of <italic>TERT</italic> rs2736100_C in sporadic and familial MPN in the context of the previously identified <italic>JAK2</italic> GGCC predisposition haplotype. We have confirmed the <italic>TERT</italic> rs2736100_C association in a large cohort of Italian sporadic MPN patients. The risk conferred by <italic>TERT</italic> rs2736100_C is present in all molecular and diagnostic MPN subtypes. <italic>TERT</italic> rs2736100_C and <italic>JAK2</italic> 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 <italic>TERT</italic> rs2736100_C significantly enriched (<italic>P</italic> = 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. © 2014 Wiley Periodicals, Inc.</p> </abstract>