ABSTRACT
It is of interest to evaluate NOTCH1, CD44, BMI1, and TP53 genes in the epiglottis, tongue, and hard palate of oral malignancies (OM) with healthy controls. This was a prospective and cross-sectional study of 60 individuals with oral malignancies (OM) (20 each of tongue, epiglottis, and hard palate) studied at Malla Reddy Medical College and tertiary care hospitals in Hyderabad. Adults aged ≥ 18 years and diagnosed with oral cancer were included in the study. Those who had cancer in more than one area were excluded from the study. Blood samples of individuals with tongue or epiglottis or hard palate were taken for testing the expression of NOTCH1, CD44, TP53, and BMI1 genes. They were analysed by the genomic sequencing method. One-way ANOVA with Bonferroni's t-test was used for statistical analysis. Expression of NOTCH1, CD44, BMI1, and TP53 genes were significantly higher in epiglottis, tongue, and hard palate compared to healthy control samples (p < 0.001). All four genes were expressed in all three areas of OM. However, they were not significant between them. Further analysis revealed that NOTCH1, CD44, TP53, and BMI1 genes did not show any difference in HPV-positive and HPV-negative samples. Comparing the T stages of cancer Notch1, gene expression was significantly higher in stages 1 and 2 compared to 3 and 4. The CD44, TP53, and BMI1 did not show any differences in the T stage. However, the difference in HPV in all T stages was very minimal. Data showed that irrespective of the areas of cancer (epiglottis, tongue, and hard palate) NOTCH1, CD44, TP53, and BMI1 genes were expressed equally. The expression was not very much dependent on HPV positive (+ve) or negative (-ve). However the T-stage was showing higher expression compared to control group. Since the expression of these genes was very high in all the three malignancies, they may be used as early biomarkers to detect cancer of epiglottis, tongue, and hard palate.
ABSTRACT
Single nucleotide polymorphisms (SNPs) in adiponectin gene [rs1501299 (+276G/T) and rs266729 (-11377C/G)] and one SNP of leptin gene [rs7799039 (-2548G/A)] are known to influence plasma levels of adiponectin and leptin respectively. Literature is scarce on the association of adiponectin gene polymorphism rs266729 with breast cancer. The present study was taken up to study these polymorphisms and their association with breast cancer. Ninety-three patients diagnosed with malignant breast cancer were included as cases along with 186 age matched healthy controls. Adiponectin +276G/T, -11377C/G and leptin -2548G/A polymorphism were studied using polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP). Adipokine levels in blood were measured using enzyme linked immunosorbent assay. Adiponectin +276G/T and leptin -2548G/A showed a significant increased risk for breast cancer even after adjusting for confounding variables like present age, age at menarche, age at first child birth and age at menopause. In the subset analysis, based on menopausal state, stronger association was observed between SNP in adiponectin gene +276G/T with the breast cancer in post-menopausal women after adjusting for all other variables. No association was found with adiponectin -11377C/G. No association of the gene polymorphisms with adipokine levels was observed. Also, no significant association was seen for the effect of gene-environment interaction i.e. presence of polymorphism with obesity and menopausal state for any of the SNPs studied. Adiponectin +276G/T is strongly associated with breast cancer in postmenopausal women while leptin -2548G/A polymorphisms is significantly associated with breast cancer irrespective of the menopausal state in south Indian subjects.
