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

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 ...

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Bibliographic Details
Published in:Biomarkers 2010-08, Vol.15 (5), p.470-474
Main Authors: Perales, Guillermo, Burguete-García, Ana I., Dimas, Jisela, Bahena-Román, Margarita, Bermúdez-Morales, Víctor H., Moreno, José, Madrid-Marina, Vicente
Format: Article
Language:English
Subjects:
Adult
AKNA
Alleles
AT-hook motif
AT-Hook Motifs - genetics
Cervical cancer
DNA-Binding Proteins - genetics
Female
Gene Frequency
Genetic Predisposition to Disease - genetics
Genotype
HPV
Humans
Middle Aged
Nuclear Proteins - genetics
Odds Ratio
Polymorphism, Single Nucleotide
RFLP
risk factor
Risk Factors
SNPs
Transcription Factors - genetics
Uterine Cervical Neoplasms - genetics
Uterine Cervical Neoplasms - pathology
Young Adult
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Summary: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.
ISSN:1354-750X
1366-5804
DOI:10.3109/1354750X.2010.485332