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Roles of CDKN1A gene polymorphisms (rs1801270 and rs1059234) in the development of cervical neoplasia

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Tumor Biology

Abstract

The CDKN1A gene product is a p53 downstream effector, which participates in cell differentiation, development process, repair, apoptosis, senescence, migration, and tumorigenesis. The objective of our study was investigated the importance of two polymorphisms in the CDKN1A gene, rs1801270 (31C>A) and rs1059234 (70C>T), for the development of cervical lesions in a Southeastern Brazilian population (283 cases, stratified by lesion severity, and 189 controls). CDKN1A genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and/or DNA sequencing. CDKN1A 31A allele presents a genetic pattern of protection for the development of high-grade cervical lesions (CC vs CA genotype: OR = 0.60; 95 % CI = 0.38–0.95; p = 0.029; CA+AA vs CC genotype: OR = 0.60; 95 % CI = 0.39–0.93; p = 0.021). Allele distributions of the CDKN1A 70C>T polymorphism were also different between the two study groups, with the CDKN1A 70T allele being less prevalent among cases. Moreover, the double heterozygote genotype combination 31CA-70CT decreases the chance of developing high-grade squamous intraepithelial lesion (HSIL) and cancer (OR = 0.55; 95 % CI = 0.32–0.93; p = 0.034) by 50 %, representing a protective factor against the development of more severe cervical lesions.

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Authors and Affiliations

  1. Department of Biochemistry, Biology Institute, State University of Rio de Janeiro - UERJ, Av. 28 de Setembro, 87 fundos 4°. andar, Vila Isabel, Rio de Janeiro, RJ, Brazil, CEP 20551-030

    Sandra Liliana Vargas-Torres, Amanda Lima Silva & Jacyara Maria Brito Macedo

  2. Department of Pathology, State University of Rio de Janeiro - UERJ, Rio de Janeiro, Brazil

    Elyzabeth Avvad Portari

  3. Department of Pathology, Fernandes Figueira Institute - FIOCRUZ, Rio de Janeiro, Brazil

    Elyzabeth Avvad Portari

  4. Department of Rheumatology, State University of Rio de Janeiro - UERJ, Rio de Janeiro, RJ, Brazil

    Evandro Mendes Klumb

  5. Department of Biophysics and Biometry, State University of Rio de Janeiro - UERJ, Rio de Janeiro, RJ, Brazil

    Heloísa Carneiro da Rocha Guillobel

  6. Department of Gynecology, Fernandes Figueira Institute - FIOCRUZ, Rio de Janeiro, Brazil

    Maria José de Camargo & Fábio Bastos Russomano

  7. Department of Genetics, State University of Rio de Janeiro - UERJ, Rio de Janeiro, RJ, Brazil

    Cíntia Barros Santos-Rebouças

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  1. Sandra Liliana Vargas-Torres
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  2. Elyzabeth Avvad Portari
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  6. Maria José de Camargo
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  9. Jacyara Maria Brito Macedo
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Correspondence to Jacyara Maria Brito Macedo.

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Vargas-Torres, S.L., Portari, E.A., Silva, A.L. et al. Roles of CDKN1A gene polymorphisms (rs1801270 and rs1059234) in the development of cervical neoplasia. Tumor Biol. 37, 10469–10478 (2016). https://doi.org/10.1007/s13277-016-4850-3

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