Human Genome Centre, School of Medical Sciences,Universiti Sains Malaysia, Health Campus,16150 Kubang Kerian, Kelantan, Malaysia.
World J Gastroenterol. 2013 Jun 21;19(23):3623-8. doi: 10.3748/wjg.v19.i23.3623.
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.
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.
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).
The XPC Gln/Gln genotype alone and in combination with smoking increases the risk of CRC among Malaysians.
研究单纯和联合吸烟的着色性干皮病 C 组(XPC)Lys939Gln 多态性与结直肠癌(CRC)易感性的风险关联。
收集了 510 名研究对象(255 名 CRC 患者,255 名对照)的外周血样本。提取 DNA 并使用聚合酶链反应-限制性片段长度多态性进行基因分型。使用 OR 和 95%CI 确定多态基因型与 CRC 易感性的关联。
与对照组相比,病例组纯合变异(Gln/Gln)基因型的频率明显更高(16.0%对 10.2%,P=0.049)。XPC 的 Gln/Gln 基因型与 CRC 的风险显著相关(OR=1.884;95%CI:1.082-3.277;P=0.025)。在等位基因频率方面,变异等位基因 C 与 CRC 的风险显著增加相关(OR=1.375;95%CI:1.050-1.802;P=0.020)。此外,携带 Gln/Gln 变异基因型且吸烟的个体的风险明显更高(OR=3.409;95%CI:1.061-10.949;P=0.032)。
XPC Gln/Gln 基因型单独和联合吸烟增加了马来西亚人 CRC 的风险。