Institute of Hygiene, Università Cattolica del Sacro Cuore, Rome, Italy.
Mutagenesis. 2012 May;27(3):267-73. doi: 10.1093/mutage/ger065. Epub 2011 Oct 4.
The p73 gene (1p36-33) is involved in cancer development through cell growth inhibition by inducing apoptosis in a p53-like manner. The p73 G4C14-to-A4T14 dinucleotide polymorphism, consisting of two single-nucleotide polymorphisms in the non-coding region of exon 2 that are in complete linkage disequilibrium, has been extensively studied in association with cancer risk. We performed a meta-analysis of published studies that examined the association between this p73 G4C14-to-A4T14 polymorphism and cancer by searching for relevant studies on Medline and Embase up to February 28, 2010. Pooling data from 19 case-control studies that included 6510 cancer cases and 5711 controls, we found that carriers of the p73 G4C14-to-A4T14 homozygous variant genotype (AT/AT) had an increased global risk of cancer [odds ratio (OR) = 1.30, 95% confidence interval (CI), 1.03-1.65]. There was no evidence of an effect modification of p73 AT/AT by age, gender, ethnicity or smoking status in subgroup analyses; however, a 1.35-fold statistically significant increased risk was found among individuals <55 years old. In case-only analysis, the homozygous p73 G4C14-to-A4T14 variant of p73 genotype was associated with the presence of the p53 exon 4 Arg72Pro allele (OR = 1.30, 95% CI, 1.02-1.64), which is suggestive of a biological interaction between the two genes in carcinogenesis. In conclusion, the p73 G4C14-to-A4T14 homozygous variant genotype might be a risk factor for cancer, especially in combination with the p53 exon 4 Arg72Pro polymorphism. Further studies looking at p73 G4C14-to-A4T14 and p53 exon 4 Arg72Pro interaction are required to support our findings.
p73 基因(1p36-33)通过诱导类似于 p53 的细胞凋亡来抑制细胞生长,从而参与癌症的发生。p73 G4C14-to-A4T14 二核苷酸多态性由外显子 2 非编码区的两个单核苷酸多态性组成,它们完全处于连锁不平衡状态,已广泛研究其与癌症风险的相关性。我们通过搜索 Medline 和 Embase 上截至 2010 年 2 月 28 日的相关研究,对已发表的研究进行了荟萃分析,以检查该 p73 G4C14-to-A4T14 多态性与癌症之间的关联。对包括 6510 例癌症病例和 5711 例对照的 19 项病例对照研究的数据进行合并,我们发现 p73 G4C14-to-A4T14 纯合变体基因型(AT/AT)的携带者患癌症的整体风险增加[比值比(OR)=1.30,95%置信区间(CI),1.03-1.65]。在亚组分析中,p73 AT/AT 没有因年龄、性别、种族或吸烟状况而产生影响修饰作用;然而,在年龄<55 岁的个体中发现了统计学上显著增加的 1.35 倍风险。在仅病例分析中,p73 基因型的纯合 p73 G4C14-to-A4T14 变体与 p53 外显子 4 Arg72Pro 等位基因的存在相关(OR=1.30,95%CI,1.02-1.64),提示这两个基因在致癌作用中存在生物学相互作用。总之,p73 G4C14-to-A4T14 纯合变体基因型可能是癌症的危险因素,尤其是与 p53 外显子 4 Arg72Pro 多态性相结合时。需要进一步研究 p73 G4C14-to-A4T14 和 p53 外显子 4 Arg72Pro 相互作用,以支持我们的发现。