title: Roles of CDKN1A gene polymorphisms (rs1801270 and rs1059234) in the development of cervical neoplasia.
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.
authors: 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.
authors: Sandra Liliana
authors: SL
authors: Vargas-Torres
authors: Department of Pathology, State University of Rio de Janeiro - UERJ, Rio de Janeiro, Brazil.|Department of Pathology, Fernandes Figueira Institute - FIOCRUZ, Rio de Janeiro, Brazil.
authors: Elyzabeth Avvad
authors: EA
authors: Portari
authors: 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.
authors: Amanda Lima
authors: AL
authors: Silva
authors: Department of Rheumatology, State University of Rio de Janeiro - UERJ, Rio de Janeiro, RJ, Brazil.
authors: Evandro Mendes
authors: EM
authors: Klumb
authors: Department of Biophysics and Biometry, State University of Rio de Janeiro - UERJ, Rio de Janeiro, RJ, Brazil.
authors: Heloísa Carneiro
authors: HC
authors: da Rocha Guillobel
authors: Department of Gynecology, Fernandes Figueira Institute - FIOCRUZ, Rio de Janeiro, Brazil.
authors: Maria José
authors: MJ
authors: de Camargo
authors: Department of Genetics, State University of Rio de Janeiro - UERJ, Rio de Janeiro, RJ, Brazil.
authors: Cíntia Barros
authors: CB
authors: Santos-Rebouças
authors: Department of Gynecology, Fernandes Figueira Institute - FIOCRUZ, Rio de Janeiro, Brazil.
authors: Fábio Bastos
authors: FB
authors: Russomano
authors: 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. jacyara@uerj.br.
authors: Jacyara Maria Brito
authors: JM
authors: Macedo
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000821:virology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil / Q000453:epidemiology; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000821:virology; D016022:Case-Control Studies; D050759:Cyclin-Dependent Kinase Inhibitor p21 / Q000235:genetics* / Q000502:physiology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics* / Q000502:physiology; D027383:Papillomaviridae / Q000302:isolation & purification; D030361:Papillomavirus Infections / Q000453:epidemiology / Q000821:virology; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D065310:Squamous Intraepithelial Lesions of the Cervix / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000821:virology; D002583:Uterine Cervical Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000821:virology; D055815:Young Adult; D002578:Uterine Cervical Dysplasia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000821:virology
chemical_list: C493956:CDKN1A protein, human; D050759:Cyclin-Dependent Kinase Inhibitor p21; D009363:Neoplasm Proteins
keywords: CDKN1A; Cervical neoplasia; Polymorphism; p21; rs1059234; rs1801270