title: Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population.
abstract: Colorectal cancer (CRC) is among the major causes of cancer-related morbidity, mortality, and human health problem worldwide. Single-nucleotide polymorphisms (SNPs) in different genes are reported to be effective in increased risk of CRC in different ethnic population. We conducted a case-control study in patients diagnosed with sporadic colorectal cancer (n = 115) and healthy controls based on colonoscopy evidences (n = 120).In this replicative study, we aimed to investigate the association of two previously reported polymorphisms, rs6983267 and rs4444903, with sporadic colorectal cancer in a subset of Iranian patients. Genotyping was performed via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. A significant relation was found between rs6983267 variant in the 8q24 region and colorectal cancer. The distribution of G/G genotypes among sporadic CRC patients was more frequent than that in the control group (P value = 0.001). The frequency of the G allele in the colorectal cancer patient group was also higher than that in the control group (65% vs. 48%; P value = 0.001). Compared with GG genotype, individuals with G/T and T/T genotypes had lower risk to develop sporadic CRC (OR = 0.357, 95% CI = 0.201-0.635). For the rs4444903 SNP, no significant association (P value = 0.149) was found with colorectal cancer risk. In conclusion, our findings suggest that the 8q24 rs6983267 SNP may play a pivotal role in the development of sporadic CRC in Iranian population. Therefore, it may be included as a potential genetic susceptibility marker for sporadic CRC.
authors.affiliation: Department of Biomedical Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Daraei
authors.forename: R
authors.initials: R
authors.lastname: Salehi
authors.forename: M
authors.initials: M
authors.lastname: Salehi
authors.forename: M H
authors.initials: MH
authors.lastname: Emami
authors.forename: M
authors.initials: M
authors.lastname: Janghorbani
authors.forename: M
authors.initials: M
authors.lastname: Jonghorbani
authors.forename: F
authors.initials: F
authors.lastname: Mohamadhashem
authors.forename: H
authors.initials: H
authors.lastname: Tavakoli
mesh_terms: D016022:Case-Control Studies; D002877:Chromosomes, Human; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003106:Colon / Q000378:metabolism; D015179:Colorectal Neoplasms / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D004273:DNA, Neoplasm / Q000235:genetics*; D004815:Epidermal Growth Factor / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012007:Rectum / Q000378:metabolism; D012307:Risk Factors
chemical_list: D004273:DNA, Neoplasm; D004815:Epidermal Growth Factor