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 = 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.
Perales
Guillermo
G
Instituto Nacional de Salud Pública, CISEI, Division of Chronic Infections and Cancer, Cuernavaca, Morelos, Mexico.
Burguete-García
Ana I
AI
Dimas
Jisela
J
Bahena-Román
Margarita
M
Bermúdez-Morales
Víctor H
VH
Moreno
José
J
Madrid-Marina
Vicente
V
D024761:AT-Hook Motifs / Q000235:genetics; D000328:Adult; D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*; D002583:Uterine Cervical Neoplasms / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
C423232:AKNA protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors