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Open Access 01-04-2012 | Research

Variations in Suppressor Molecule CTLA-4 Gene Are Related to Susceptibility to Multiple Myeloma in a Polish Population

Authors: Lidia Karabon, Edyta Pawlak-Adamska, Anna Tomkiewicz, Anna Jedynak, Marek Kielbinski, Dariusz Woszczyk, Stanisław Potoczek, Anna Jonkisz, Kazimierz Kuliczkowski, Irena Frydecka

Published in: Pathology & Oncology Research | Issue 2/2012

Abstract

Various phenotype and functional T-cell abnormalities are observed in multiple myeloma (MM) patients. The aim of this study was to investigate the association between polymorphisms in the gene encoding cytotoxic T-lymphocyte antigen-4 (CTLA-4), a negative regulator of the T-lymphocyte immune response and susceptibility to multiple myeloma in a Polish population. Two hundred MM patients and 380 healthy subjects were genotyped for the following polymorphisms: CTLA-4c.49A>G, CTLA-4g.319C>T, CTLA-4g.*642AT(8_33), CT60 (CTLA-4g.*6230G>A), Jo31 (CTLA-4g.*10223G>T). Our study is the largest and most comprehensive evaluation to date of the association between genetic polymorphisms in the CTLA-4 molecule and multiple myeloma. It was found that CTLA-4c.49A>G[G], CT60[G], and Jo31[G] alleles were more frequently observed in MM patients than in controls (0.50 vs. 0.44, p = 0.03, 0.65 vs. 0.58, p = 0.04, and 0.63 vs. 0.57, p = 0.03, respectively). Moreover, the haplotype CTLA-4c.49A>G[G], CTLA-4g.319C>T[C], CTLA-4g.*642AT(8_33) [8], CT60[G], Jo31[G] including all susceptibility alleles increases the risk of MM about fourfold (OR: 3.79, 95%CI: 2.08–6.89, p = 0.00001). These findings indicate that genetic variations in the CTLA-4 gene play role in susceptibility to multiple myeloma and warrant further investigation through replication studies.

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Title: Variations in Suppressor Molecule CTLA-4 Gene Are Related to Susceptibility to Multiple Myeloma in a Polish Population
Authors: Lidia Karabon
Edyta Pawlak-Adamska
Anna Tomkiewicz
Anna Jedynak
Marek Kielbinski
Dariusz Woszczyk
Stanisław Potoczek
Anna Jonkisz
Kazimierz Kuliczkowski
Irena Frydecka
Publication date: 01-04-2012
Publisher: Springer Netherlands
Published in: Pathology & Oncology Research / Issue 2/2012
Print ISSN: 1219-4956
Electronic ISSN: 1532-2807
DOI: https://doi.org/10.1007/s12253-011-9431-6

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