Brief Article
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World J Gastroenterol. Jun 21, 2013; 19(23): 3623-3628
Published online Jun 21, 2013. doi: 10.3748/wjg.v19.i23.3623
XPC Lys939Gln polymorphism, smoking and risk of sporadic colorectal cancer among Malaysians
Abdul Aziz Ahmad Aizat, Mohd Shahpudin Siti Nurfatimah, Mustapha Mohd Aminudin, Ravindran Ankathil
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
Author contributions: Ahmad Aizat AA, Siti Nurfatimah MS and Aminudin MM collected samples; Ahmad Aizat AA performed the research and drafted the paper; Ankathil R designed the research, corrected and revised the paper.
Supported by Fundamental Research Grant Scheme (FRGS), No. 203/PPSP/6171112
Correspondence to: Dr. Ravindran Ankathil, Professor, Human Genome Centre, School of Medical Sciences,Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia. rankathil@hotmail.com
Telephone: +60-9-7676968 Fax: +60-9-7658914
Received: September 26, 2012
Revised: December 24, 2012
Accepted: March 8, 2013
Published online: June 21, 2013
Processing time: 267 Days and 0.2 Hours
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