Abstract
p53 gene variants i.e. 16 bp duplication in intron 3, Arg72Pro in exon 4 and G>A in intron 6 have been reported to modulate susceptibility to various malignancies. Therefore, the present study evaluated the role of these p53 polymorphisms in oral cancer susceptibility in a population from Gujarat, West India. Genotype frequencies at the three p53 loci in 110 controls and 79 oral cancer cases were determined by the PCR-RFLP method. Heterozygous individuals at exon 4 showed protection from developing oral cancer. Homozygous wild and heterozygous individuals at intron 3 and those heterozygous at exon 4 in combination appeared to be at lowered risk. Furthermore, carriers of the 16 bp duplication allele at intron 3, proline allele at exon 4 and G allele at intron 6 were protected from oral cancer development. p53 polymorphisms, especially Arg72Pro in exon 4 could significantly modify the risk of oral cancer development in Gujarat, West Indian population.
Highlights
Oral cancer has emerged as a major health problem worldwide
Tobacco use plays a major role in the etiology of oral cancer, only a fraction of tobacco users develop this disease, suggesting that genetic susceptibility may contribute to carcinogenic mechanisms in the population
The present study aimed to analyze whether the polymorphisms in exon 4, intron 3 and intron 6 of the p53 gene are associated with differential oral cancer risk in Gujarati population from West India where incidence of oral cancer is dramatically high
Summary
Oral cancer has emerged as a major health problem worldwide. In India, 69,820 new cases and 47,653 deaths were registered in 2008 (Ferlay et al, 2010). Complex interactions between these genetic and environmental factors may play a major role in oral carcinogenesis (Imyanitov et al, 2004) This susceptibility is modulated by polymorphisms in genes encoding DNA repair proteins, cell cycle control proteins and metabolic enzymes (Wu et al, 2002). It has been speculated that both ethnic back-ground and lifestyle differences contribute to the differences in predisposing genetic factors to cancer development (Chakrabarti et al, 2001) This fact is very crucial for country like, India where wide variations in ethnicity and life style exist. The present study aimed to analyze whether the polymorphisms in exon 4, intron 3 and intron 6 of the p53 gene are associated with differential oral cancer risk in Gujarati population from West India where incidence of oral cancer is dramatically high
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