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XPC Lys939Gln polymorphism,smoking and risk of sporadic colorectal cancer among Malaysians
Authors:Abdul Aziz Ahmad Aizat  Mohd Shahpudin Siti Nurfatimah  Mustapha Mohd Aminudin  Ravindran Ankathil
Affiliation:Abdul Aziz Ahmad Aizat, Mohd Shahpudin Siti Nurfatimah, Mustapha Mohd Aminudin, Ravindran Ankathil, Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia
Abstract:AIM: To investigate the risk association of xeroderma pigmentosum group C (XPC) Lys939Gln polymorphism alone and in combination with cigarette smoking on colorectal cancer (CRC) predisposition.METHODS: Peripheral blood samples of 510 study subjects (255 CRC patients, 255 controls)were collected. DNA was extracted and genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. The association between polymorphic genotype and CRC predisposition was determined using the OR and 95%CI.RESULTS: The frequency of the homozygous variant (Gln/Gln) genotype was significantly higher in cases compared with controls (16.0% vs 10.2%, P = 0.049). The Gln/Gln genotype of XPC showed a significantly higher association with the risk of CRC (OR = 1.884; 95%CI: 1.082-3.277; P = 0.025). In the case of allele frequencies, variant allele C was associated with a significantly increased risk of CRC (OR = 1.375; 95%CI: 1.050-1.802; P = 0.020). Moreover, the risk was markedly higher for those who were carriers of the Gln/Gln variant genotype and were also cigarette smokers (OR = 3.409; 95%CI: 1.061-10.949; P = 0.032).CONCLUSION: The XPC Gln/Gln genotype alone and in combination with smoking increases the risk of CRC among Malaysians.
Keywords:DNA repair   Xeroderma pigmentosum group C Lys939Gln polymorphism   Cigarette smoking   Colorectal cancer   Susceptibility risk
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