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Risk of multiple myeloma is associated with polymorphisms within telomerase genes and telomere length
Author(s) -
Campa Daniele,
Martino Alessandro,
Varkonyi Judit,
Lesueur Fabienne,
Jamroziak Krzysztof,
Landi Stefano,
Jurczyszyn Artur,
Marques Herlander,
Andersen Vibeke,
Jurado Manuel,
Brenner Hermann,
Petrini Mario,
Vogel Ulla,
GarcíaSanz Ramón,
Buda Gabriele,
Gemignani Federica,
Ríos Rafael,
Vangsted Annette Juul,
Dumontet Charles,
MartínezLópez Joaquín,
Moreno María José,
Stępień Anna,
Wątek Marzena,
Moreno Victor,
Dieffenbach Aida Karina,
Rossi Anna Maria,
Butterbach Katja,
Jacobsen Svend E. Hove,
Goldschmidt Hartmut,
Sainz Juan,
Hillengass Jens,
Orciuolo Enrico,
Dudziński Marek,
Weinhold Niels,
Reis Rui Manuel,
Canzian Federico
Publication year - 2014
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.29101
Subject(s) - telomere , telomerase , multiple myeloma , quartile , medicine , biology , oncology , gene , immunology , genetics , confidence interval
Compelling biological and epidemiological evidences point to a key role of genetic variants of the TERT and TERC genes in cancer development. We analyzed the genetic variability of these two gene regions using samples of 2,267 multiple myeloma (MM) cases and 2,796 healthy controls. We found that a TERT variant, rs2242652, is associated with reduced MM susceptibility (OR = 0.81; 95% CI: 0.72–0.92; p = 0.001). In addition we measured the leukocyte telomere length (LTL) in a subgroup of 140 cases who were chemotherapy‐free at the time of blood donation and 468 controls, and found that MM patients had longer telomeres compared to controls (OR = 1.19; 95% CI: 0.63–2.24; p trend = 0.01 comparing the quartile with the longest LTL versus the shortest LTL). Our data suggest the hypothesis of decreased disease risk by genetic variants that reduce the efficiency of the telomerase complex. This reduced efficiency leads to shorter telomere ends, which in turn may also be a marker of decreased MM risk.