title: Association study of selected genetic polymorphisms and occurrence of venous thromboembolism in patients with multiple myeloma who were treated with thalidomide.
abstract: BACKGROUND
  Venous thromboembolism (VTE), with the subsequent risk of pulmonary embolism, is a common adverse effect of thalidomide treatment in patients with multiple myeloma (MM). In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs7011), CETP (rs289747), ALDH1A1 (rs610529), CDKN1A (rs3829963), GAN (rs2608555), vascular endothelial growth factor (rs699947), and ALDH1A1 (rs168351), previously identified in a large association study based on the hypothesis-driven candidate gene approach nominated by the International Myeloma Foundation "Bank On A Cure" (3404 SNPs). In that study, the researchers built a classification tree that enables prediction of individual risk of VTE in patients with MM.
  
  
  METHODS
  Genotypes of these SNPs were determined in an independent cohort of 111 patients with MM through TaqMan real-time polymerase chain reaction (PCR) allelic discrimination and were used for prediction of individual VTE risk.
  
  
  RESULTS
  The results of this study did not confirm the ability of this classification tree to predict VTE risk in patients with MM from the Czech Republic; of these patients, 21 (19%) developed high-grade VTE. However, in patients with VTE, we found higher frequency of the AC genotype in the CDKN1A gene (42.9% vs. 16.7%; odds ratio 3.64) in comparison with the CC genotype (P = .015). SNPs of other genes as well as age and sex of the patients had no statistically significant influence on the risk of VTE.
  
  
  CONCLUSIONS
  Further studies are needed to confirm the initial analysis that provided predictive information of genetic variations in patients with myeloma that may influence risk of VTE.
authors.affiliation: Babak Research Institute, Masaryk University, Brno, Czech Republic.
authors.forename: Martina
authors.initials: M
authors.lastname: Almasi
authors.forename: Sabina
authors.initials: S
authors.lastname: Sevcikova
authors.forename: Ondrej
authors.initials: O
authors.lastname: Slaby
authors.forename: Petra
authors.initials: P
authors.lastname: Kaisarova
authors.forename: Vladimir
authors.initials: V
authors.lastname: Maisnar
authors.forename: Miroslav
authors.initials: M
authors.lastname: Penka
authors.forename: Tomas
authors.initials: T
authors.lastname: Pika
authors.forename: Ludek
authors.initials: L
authors.lastname: Pour
authors.forename: Jakub
authors.initials: J
authors.lastname: Radocha
authors.forename: Vlastimil
authors.initials: V
authors.lastname: Scudla
authors.forename: Hana
authors.initials: H
authors.lastname: Svachova
authors.forename: Roman
authors.initials: R
authors.lastname: Hajek
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000970:Antineoplastic Agents / Q000008:administration & dosage / Q000009:adverse effects*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D012189:Retrospective Studies; D012306:Risk; D013792:Thalidomide / Q000008:administration & dosage / Q000009:adverse effects*; D054556:Venous Thromboembolism / Q000175:diagnosis / Q000209:etiology*
chemical_list: D000970:Antineoplastic Agents; D013792:Thalidomide