title: Genetic susceptibility to esophageal cancer due to CYP1A1 gene variant rs4646903 in tobacco addicted patients of Pashtun ethnicity: a case control study in Khyber Pakhtunkhwa province of Pakistan.
abstract: The purpose of this study was to evaluate associations of the CYP1A1 gene variant rs4646903 polymorphism with the risk of developing esophageal cancer (EC). A case-control study was carried out in Pashtun population of Khyber Pakhtunkhwa province of Pakistan in which 140 hospital based EC cases and 196 population based healthy controls exposed to similar environmental conditions were included. A specific method based on the real time polymerase chain reaction (RT-PCR) was used to detect genotypes in case and control groups and results were then analyzed with SPSS version 20. In our population, individuals with CC and TC genotypes of the CYP1A1 rs4646903 polymorphism had significantly higher risk of EC (adjusted odds (OR): 15.709, 95%CI: 6.065-40.686, OR: 3.256 95%CI: 1.902-5.574 respectively). The 'C' allele was strongly associated with the disease (p< 0.0001). Adjusted OR was higher (1.5 times in C/C) in case of variant alleles that show the contribution of environmental and nutritional factors towards the development of EC. Our findings suggest that presence of the 'C' allele of rs4646903 (T>C) may be one of the risk alleles for EC susceptibility in Pashtun population.
authors.affiliation: Department of Pharmacy, Faculty of Life and Environmental Sciences, University of Peshawar, Bannu, Pakistan E-mail : saeedrph@upesh.edu.pk.
authors.lastname: Zakiullah
authors.forename: Muhammad
authors.initials: M
authors.lastname: Saeed
authors.forename: Sajid
authors.initials: S
authors.lastname: Ali
authors.forename: Nabila
authors.initials: N
authors.lastname: Javed
authors.forename: Muhammad
authors.initials: M
authors.lastname: Khisroon
authors.forename: Basir
authors.initials: B
authors.lastname: Muhammad
authors.forename: Fazli
authors.initials: F
authors.lastname: Khuda
authors.forename: Saeed
authors.initials: S
authors.lastname: Ahmad
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ismail
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014029:Tobacco Use Disorder
chemical_list: C569463:CYP1A1 protein, human; D019363:Cytochrome P-450 CYP1A1