Molecular Biology Reports

, Volume 41, Issue 9, pp 6111–6115 | Cite as

PON1 Q192R polymorphism (rs662) is associated with childhood embryonal tumors

  • Gisele M. Vasconcelos
  • Bruno Aguiar Alves Gonçalves
  • Rafaela Montalvão-de-Azevedo
  • Luiz Claúdio Santos Thuler
  • Flavio Henrique Paraguassu Braga
  • Maria S. Pombo-de-OliveiraEmail author
  • Beatriz de CamargoEmail author
  • Brazilian Embryonal Tumor Group


Genetic susceptibility and environment exposures are associated risk factors in carcinogenesis. Gene polymorphisms that decrease the activity of detoxifying carcinogen substances may modify the effect of exposures. We investigated whether the polymorphisms PON1 rs662 (Q192R), and PON1 rs854560 (L55M) would be associated with embryonal tumors in Brazilian children. Blood samples from 163 children with embryonal tumors and 342 as control group were genotyped by TaqMAN real-time PCR assays. Logistic regression was used to evaluate the association between the polymorphisms of cases and controls groups, adjusted by skin color and age strata. When all tumors were taken together, the presence of the PON1 rs662 (Q192R) variant genotype (RR) was associated with an increased risk of developing embryonal tumors (OR = 2.80, 95 % CI 1.12–7.02). The presence of at least one variant PON1 rs662 R allele increased the risk of developing Wilms´ Tumor although without statistical power. However, it was observed a significant association of PON1 rs662 (Q192R) variant genotype (RR) with retinoblastoma (OR = 4.08, 95 % CI 1.13–14.97), whereas the PON1 rs854560 (L55M) polymorphism was not associated with any tumor. These results indicate that PON1 polymorphisms may have an influence on the risk of developing embryonal tumors.


Embryonal tumors Genetic susceptibility PON1 polymorphisms Wilms tumor Neuroblastoma Retinoblastoma 


Conflict of interest

All authors disclose that no financial or personal relationships with other individuals or organizations have inappropriately influenced this study.

Authors’ contributions

GMV, BAAG, BDC contributed to study design, data collection, interpretation, and manuscript writing. MSPO has supported the study, discussed data interpretation, and reviewed the manuscript. RMV and BAAG contributed equally to all laboratory work. LCST performed statistical analysis. The Brazilian Embryonal Study group members provided clinical and biological data collection. All authors read and approved the manuscript. BDC and MSPO have scholarships grants from CNPq # 311511/2009-0 and # 309091/2007-1, respectively.


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Gisele M. Vasconcelos
    • 1
  • Bruno Aguiar Alves Gonçalves
    • 1
  • Rafaela Montalvão-de-Azevedo
    • 1
  • Luiz Claúdio Santos Thuler
    • 2
  • Flavio Henrique Paraguassu Braga
    • 3
  • Maria S. Pombo-de-Oliveira
    • 1
    Email author
  • Beatriz de Camargo
    • 1
    Email author
  • Brazilian Embryonal Tumor Group
  1. 1.Pediatric Hematology-Oncology Program, Research CenterInstituto Nacional de CâncerRio de JaneiroBrazil
  2. 2.Clinical Research, Research CenterInstituto Nacional de CâncerRio de JaneiroBrazil
  3. 3.National Cord Blood BankInstituto Nacional de CâncerRio de JaneiroBrazil

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