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A polymorphism in the AT-hook motif of the transcriptional regulator AKNA is a risk factor for cervical cancer

2010; Taylor & Francis; Volume: 15; Issue: 5 Linguagem: Inglês

10.3109/1354750x.2010.485332

1366-5804

Guillermo Perales Ortiz, Ana I. Burguete-García, Jisela Dimas, Margarita Bahena-Román, Víctor H. Bermúdez-Morales, José Moreno, Vicente Madrid‐Marina,

Cancer-related molecular mechanisms research

The AKNA gene is part of the 9q32 susceptibility locus for cervical cancer. A single-nucleotide polymorphism at codon 1119 of AKNA, yields a biologically relevant amino acid change (R1119Q) at the DNA binding AT-hook motif. Genotype frequencies in 97 allele pairs were: R/R = 0.597, R/Q = 0.278, Q/Q = 0.123. Q/Q homozygosity was present in 8.33% of healthy controls, 16.67% of patients with cervical intraepithelial neoplasia and 75% of cervical cancer patients. These differences are highly significant for the presence of Q/Q in cervical cancer (p = 0.01, odds ratio 3.66, 95% confidence interval 1.35–9.94). Therefore, AKNA appears to be an important genetic factor associated with the risk cervical cancer.