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Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms.
- Source :
-
American journal of hematology [Am J Hematol] 2014 Dec; Vol. 89 (12), pp. 1107-10. Date of Electronic Publication: 2014 Sep 26. - Publication Year :
- 2014
-
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&#95;C in sporadic and familial MPN in the context of the previously identified JAK2 GGCC predisposition haplotype. We have confirmed the TERT rs2736100&#95;C association in a large cohort of Italian sporadic MPN patients. The risk conferred by TERT rs2736100&#95;C is present in all molecular and diagnostic MPN subtypes. TERT rs2736100&#95;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&#95;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.<br /> (© 2014 Wiley Periodicals, Inc.)
- Subjects :
- Adult
Cohort Studies
Genetic Loci
Haplotypes
Hematologic Neoplasms diagnosis
Hematologic Neoplasms pathology
Humans
Italy
Male
Middle Aged
Multigene Family
Myeloproliferative Disorders diagnosis
Myeloproliferative Disorders pathology
Pedigree
Penetrance
Risk
Genetic Predisposition to Disease
Germ-Line Mutation
Hematologic Neoplasms genetics
Janus Kinase 2 genetics
Myeloproliferative Disorders genetics
Telomerase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1096-8652
- Volume :
- 89
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- American journal of hematology
- Publication Type :
- Academic Journal
- Accession number :
- 25196853
- Full Text :
- https://doi.org/10.1002/ajh.23842