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Several polymorphisms in the CYP1A1 locus have been identified and their genotypes appear to exhibit population frequencies that depend on ethnicity. In this study, we assessed the role of CYP1A1 genotype in 388 head and neck cancer patients in Pakistani population via a case-control study. Polymerase chain reaction (PCR) and single stranded conformational polymorphism assays were used. Most of the patients (51%) enrolled for the study, were from the age group of 40 to 60 years (±16.59). Mean age of the cancer patients involved in the study was 48 ± 16.59 years. Statistical analysis has shown that, tobacco users have more chances of head and neck cancer (P 0.05). Jobless persons are more prone to head and neck cancer (P < 0.01) compared with employers and housewives. After the genetic analysis, it was found that no already reported variants of CYP1A1 gene were found in Pakistani population. A novel mutation in CYP1A1 gene at exon 2 in 21 patients (P < 0.001, Odd Ratio (OR) = 9.4 and 95% confidence interval (CI) 1.3 to 70.8) has been found with a serine formation instead of tyrosine at amino acid 110. The patients showing this mutation have the mean age of 51.75 (±15.7). Therefore, mutation in CYP1A1 gene may be one of several factors that increase the chance of developing head and neck cancer. Key words: Cytochrome P450 1A1 gene (CYP1A1), head and neck cancer (HNC), mutation, novel polymorphism, Pakistani population.

A novel CYP1A1 gene polymorphism and the risk of head and neck cancer in Pakistani population