Sino-France Laboratory for Drug Screening, Key Laboratory of Molecular Biophysics of Ministry of Education, School of Life Science and Technology, Wuhan, China.
Carcinogenesis. 2010 Apr;31(4):643-7. doi: 10.1093/carcin/bgq018. Epub 2010 Jan 20.
A few genetic polymorphisms of TP53 are known to have a significant effect on cancer susceptibility. Intron 3 16 bp duplication polymorphism of TP53 has been reported to be associated with breast cancer, colorectal cancer, lung cancer and other cancers, but the reported results remain inconclusive. The present study, a meta-analysis including a total of 9801 cases and 10,391 controls from 26 studies, revealed that the 16 bp insertion (Ins) allele is significantly associated with an increased cancer risk in overall analysis [Ins/Ins + deletion (Del)/Ins versus Del/Del: odds ratio (OR) = 1.14, 95% confidence interval (CI) = 1.02-1.27, P = 0.02; Ins/Ins versus Del/Del: OR = 1.35, 95% CI = 1.11-1.63, P = 0.002; Del/Ins versus Del/Del: OR = 1.10, 95% CI = 0.98-1.23, P = 0.11.), particularly in breast cancer subgroup (Ins/Ins + Del/Ins versus Del/Del: OR = 1.16, 95% CI = 1.03-1.31, P = 0.02; Ins/Ins versus Del/Del: OR = 1.81, 95% CI = 1.30-2.52, P < 0.001; Del/Ins versus Del/Del: OR = 1.10, 95% CI = 0.97-1.25, P = 0.13). The relative risks to the colorectal and lung cancers increased but their association power was relatively weak, which may result from a limited number of studies of these two cancer types. These results suggest that intron 3 16 bp duplication polymorphism of TP53 is potentially an important and clinically relevant genetic marker contributing to cancer susceptibility.
一些 TP53 的遗传多态性已被证实对癌症易感性有显著影响。TP53 内含子 3 16bp 重复多态性已被报道与乳腺癌、结直肠癌、肺癌等多种癌症相关，但报道结果仍存在争议。本研究采用荟萃分析，纳入了来自 26 项研究的总计 9801 例病例和 10391 例对照，结果显示 16bp 插入（Ins）等位基因与总体癌症风险增加显著相关[Ins/Ins+缺失（Del）/Ins 与 Del/Del：比值比（OR）=1.14，95%置信区间（CI）=1.02-1.27，P=0.02；Ins/Ins 与 Del/Del：OR=1.35，95%CI=1.11-1.63，P=0.002；Del/Ins 与 Del/Del：OR=1.10，95%CI=0.98-1.23，P=0.11]，特别是在乳腺癌亚组[Ins/Ins+Del/Ins 与 Del/Del：OR=1.16，95%CI=1.03-1.31，P=0.02；Ins/Ins 与 Del/Del：OR=1.81，95%CI=1.30-2.52，P<0.001；Del/Ins 与 Del/Del：OR=1.10，95%CI=0.97-1.25，P=0.13]。结直肠癌和肺癌的相对风险增加，但关联强度相对较弱，这可能是由于这两种癌症类型的研究数量有限。这些结果表明，TP53 内含子 3 16bp 重复多态性可能是一个重要的、具有临床相关性的遗传标志物，有助于癌症易感性。
