Zhang Deqiang, Chen Chengwen, Fu Xuping, Gu Shaohua, Mao Yumin, Xie Yi, Huang Yan, Li Yao
State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Science, Fudan University, Shanghai, 200433, People's Republic of China.
J Hum Genet. 2008;53(1):18-33. doi: 10.1007/s10038-007-0215-5. Epub 2007 Nov 17.
Polymorphisms (A33512C, C21151T and PAT -/+) of the xeroderma pigmentosum group C (XPC) were shown to contribute to genetic susceptibility to cancer. However, association studies on these polymorphisms in cancer have shown conflicting results. Thus, we performed a meta-analysis. Overall, there was no significant association between 33512C (9,091 patients and 11,553 controls) and cancer risk. No significant association was found in stratification analysis by tumor sites and ethnicities except an elevated lung cancer risk under the recessive genetic model in all subjects [P = 0.04, odds ratio (OR) = 1.20, 95% confidence interval (CI) 1.00-1.45, P (heterogeneity) = 0.88]. There was no significant association between 21151T (5,227 patients and 5,959 controls) and cancer risk in all subjects but an increased cancer risk in Caucasians under the recessive genetic model (P = 0.006, OR = 1.45, 95% CI 1.11-1.90, P (heterogeneity) = 0.75) and homozygote comparison (P = 0.02, OR = 1.41, 95% CI 1.07-1.81, P (heterogeneity) = 0.41). It might be that 21151T increases bladder cancer risk under the recessive genetic model (P = 0.02, OR = 1.49, 95% CI 1.06-2.09, P (heterogeneity) = 0.47) and homozygote comparison (P = 0.02, OR = 1.49, 95% CI 1.05-2.11, P (heterogeneity) = 0.23). There was no significant association between PAT + (4,600 patients and 4,866 controls) and cancer risk in all subjects. An increased cancer risk in Caucasians was found under the recessive genetic model (P = 0.02, OR = 1.20, 95% CI 1.03-1.40, P (heterogeneity) = 0.37) and homozygote comparison (P = 0.008, OR = 1.26, 95% CI 1.06-1.50, P (heterogeneity) = 0.13). The XPC PAT + allele might increase head and neck cancer risk (P = 0.02, OR = 1.29, 95% CI 1.04-1.59, P (heterogeneity) = 0.15). More studies based on larger, stratified, case-control population, especially studies investigate the combined effect of XPC A33512C, C21151T, and PAT, are required to further evaluate the role of these polymorphisms in different cancers.
皮肤色素沉着症C组(XPC)的多态性(A33512C、C21151T和PAT -/+)被证明与癌症的遗传易感性有关。然而,关于这些多态性与癌症的关联研究结果相互矛盾。因此,我们进行了一项荟萃分析。总体而言,33512C(9091例患者和11553例对照)与癌症风险之间无显著关联。除了在所有受试者的隐性遗传模型下肺癌风险升高外(P = 0.04,比值比(OR)= 1.20,95%置信区间(CI)1.00 - 1.45,P(异质性)= 0.88),在按肿瘤部位和种族进行的分层分析中未发现显著关联。在所有受试者中,21151T(5227例患者和5959例对照)与癌症风险之间无显著关联,但在隐性遗传模型下白种人的癌症风险增加(P = 0.006,OR = 1.45,95% CI 1.11 - 1.90,P(异质性)= 0.75)以及纯合子比较中(P = 0.02,OR = 1.41,95% CI 1.07 - 1.81,P(异质性)= 0.41)。在隐性遗传模型下21151T可能增加膀胱癌风险(P = 0.02,OR = 1.49,95% CI 1.06 - 2.09,P(异质性)= 0.47)以及纯合子比较中(P = 0.02,OR = 1.49,95% CI 1.05 - 2.11,P(异质性)= 0.23)。在所有受试者中,PAT +(4600例患者和4866例对照)与癌症风险之间无显著关联。在隐性遗传模型下白种人的癌症风险增加(P = 0.02,OR = 1.20,95% CI 1.03 - 1.40,P(异质性)= 0.37)以及纯合子比较中(P = 0.008,OR = 1.26,95% CI 1.06 - 1.50,P(异质性)= 0.13)。XPC PAT +等位基因可能增加头颈癌风险(P = 0.02,OR = 1.29,95% CI 1.04 - 1.59,P(异质性)= 0.15)。需要更多基于更大规模、分层的病例对照人群的研究,特别是研究XPC A33512C、C21151T和PAT联合效应的研究,以进一步评估这些多态性在不同癌症中的作用。