RESUMO
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.
Assuntos
Proteínas de Ligação a DNA/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , Neoplasias do Colo do Útero/genética , Motivos AT-Hook/genética , Adulto , Alelos , Feminino , Frequência do Gene , Predisposição Genética para Doença/genética , Genótipo , Humanos , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco , Neoplasias do Colo do Útero/patologia , Adulto JovemRESUMO
Up to 28-fold differences in vacA expression in Helicobacter pylori strains grown in vitro were demonstrated by real time quantitative RT-PCR. These large differences in expression were unrelated to putative -35 and -10 motifs or to other untranslated sequences upstream of the ATG start site. The lack of correlation between promoter sequences and the vacA expression levels suggest the potential existence of a bacterial strain-specific factor, as earlier proposed by others on the basis of reporter gene fusions.
