Association of CDKN2A polymorphisms with the severity of cervical neoplasia in a Brazilian population

• Published in: Biomarkers Vol. 19; no. 2; pp. 121 - 127
• Main Authors: Vargas-Torres, Sandra Liliana, Portari, Elyzabeth Avvad, Klumb, Evandro Mendes, Guillobel, Heloisa Carneiro da Rocha, Camargo, Maria José de, Russomano, Fábio Bastos, Macedo, Jacyara Maria Brito
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01-03-2014; Taylor & Francis
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Brazil; Case-Control Studies; Cervical Intraepithelial Neoplasia - genetics; Cervical Intraepithelial Neoplasia - pathology; Cervical lesion; Cyclin-Dependent Kinase Inhibitor p16 - genetics; Female; Genetic Association Studies; Genetic Predisposition to Disease; Haplotypes; Humans; Middle Aged; p14(ARF); p16(INK4a); Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Severity of Illness Index; SNPs; susceptibility; Uterine Cervical Neoplasms - genetics; Uterine Cervical Neoplasms - pathology; Young Adult; Brazil
• ISSN: 1354-750X; 1366-5804
• DOI: 10.3109/1354750X.2014.881419

Abstract
Variants of p16(INK4a) and p14(ARF), encoded by the CDKN2A locus, may respond differently to the presence of human papillomavirus (HPV). We investigated the potential association of two CDKN2A polymorphisms, 500C > G (rs11515) and 540C > T (rs3088440), with cervical neoplasia in patients with cervical lesions and healthy controls (n = 492). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), single-strand conformation polymorphism (SSCP) and/or DNA sequencing techniques were employed for genotyping. The 500G allele was found higher, whereas the 540T/T genotype was less frequent in patients with more severe lesions. The CDKN2A variants may have the potential to be markers for the management of patients with cervical neoplasia.