Association between p53 Polymorphism at Codon 72 and Recurrent Spontaneous Abortion

p53 gene plays an important role in apoptosis, which is necessary for successful invasion of trophoblast cells. The change from an arginine（Arg） to a proline（Pro） at codon 72 can influence the biological activity of p53, which predisposes to an increased risk of recurrent spontaneous abortion（RSA）. In order to investigate the association between p53 polymorphism at codon 72 and RSA, we conducted this meta-analysis. Pubmed, Embase and Web of science were used to identify the eligible studies. Odds ratio（OR） with 95% confidence interval（CI） was used to evaluate the strength of the association. Six studies containing 937 cases of RSA and 830 controls were included, and there was one study deviated from Hardy-Weinberg equilibrium（HWE）. There was a significant association between p53 polymorphism at codon 72 and RSA in recessive model（Pro/Pro vs. Pro/Arg＋Arg/Arg; OR=1.60, 95% CI： 1.14–2.24） and co-dominant model（Pro/Pro vs. Arg/Arg; OR=1.47, 95% CI： 1.02–2.12） whether the study that was deviated from HWE was eliminated or not. A significant association was observed in allelic model（Pro vs. Arg; OR=1.28, 95% CI： 1.04–1.57） after exclusion of the study that was deviated from HWE. No association was noted in recessive model（Pro/Pro＋Pro/Arg vs. Arg/Arg; OR=1.05, 95% CI： 0.86–1.30） and co-dominant model（Pro/Arg vs. Arg/Arg; OR=0.96, 95% CI： 0.77–1.19）. Subgroup analysis by ethnicity also indicated a significant association between p53 polymorphism at codon 72 and RSA in Caucasian group. No heterogeneity and publication bias were found. Our meta-analysis implied that p53 polymorphism at codon 72 carries high maternal risk of RSA.

p53 Codon 72多态性与宫颈癌关系的研究

目的 探讨抑癌基因 p5 3codon72多态性与宫颈癌的关系。方法 应用聚合酶链反应法分别对15例卵巢浆液性囊腺癌、15例宫颈鳞状细胞癌和 2 0例正常妇女的 p5 3codon72多态性进行检测。结果 p5 3Arg纯合子、p5 3Pro纯合子和 p5 3Arg/ p5 3Pro杂合子在正常妇女对照组分别为 38%、6 %和 5 6 % ;而在卵巢癌组分别为 38%、5 %和 5 7% ;在宫颈癌组分别为 78%、8%和 14%。上述人群中 ,宫颈癌 p5 3Arg纯合子明显高于卵巢癌组和正常妇女对照组 (P<0 .0 5 )。结论 p5 3Arg纯合子可作为与

p53 codon72多态性与延边地区乳腺癌发生的相关性

[目的]探讨p53基因codon72多态性与延边地区朝鲜族及汉族乳腺癌发生的遗传易感性关系,并观察多态性分布是否存在种族差异.[方法]采用限制性酶切片段多态性分析技术检测90例乳腺癌组织及94例对照健康妇女p53 codon72基因多态性的分布.[结果]p53 codon72的3种基因型Arg/Arg、Pro/Pro、Pro/Arg在朝鲜族乳腺癌组中所占比例分别为48.78%,29.27%,21.95%,与朝鲜族对照组的16.28%,46.51%,37.20%相比较,总构成比差异有统计学意义(χ2=10.17),其中朝鲜族乳腺癌组Arg/Arg所占比例明显高于对照组,且高于其他2个型;在延边地区汉族乳腺癌组中所占比例分别为20.41%,32.65%,46.93%,与汉族对照组33.33%,43.13%,23.53%相比较差异有统计学意义(χ2=6.18),Pro/Arg在汉族乳腺癌组中所占比例明显高于对照组.[结论]p53 Arg/Arg及Pro/Arg基因型分别可能是延边地区朝鲜族及汉族乳腺癌发生的主要遗传易感因素.

Joint effect among p53, CYP1A1, GSTM1 polymorphism combinations and smoking on prostate cancer risk： an exploratory genotype-environment interaction study

Aim： To assess the role of several genetic factors in combination with an environmental factor as modulators of prostate cancer risk. We focus on allele variants of low-penetrance genes associated with cell control, the detoxification processes and smoking. Methods： In a case-control study we compared people carrying p53cd72 Pro allele, CYP1A1 M1 allele and GSTM1 null genotypes with their prostate cancer risk. Results： The joint risk for smokers carrying Pro^＊ and MI^＊, Pro^＊ and GSTM1null or GSTM1 null and CYP1A1 MI^＊ variants was significantly higher （odds ratio [OR]： 13.13, 95% confidence interval [CI]： 2.41-71.36; OR： 3.97, 95% CI： 1.13-13.95 and OR： 6.87, 95% CI： 1.68-27.97, respectively） compared with that for the reference group, and for non-smokers was not significant. OR for combinations among p53cd72, GSTM1 and CYP1A1 M1 in smokers were positively and significantly associated with prostate cancer risk compared with non-smokers and compared with the putative lowest risk group （OR： 8.87, 95% CI： 1.25-62.71）. Conclusion： Our results suggest that a combination of p53cd72, CYP1A1, GSTM1 alleles and smoking plays a significant role in modified prostate cancer risk on the study population, which means that smokers carrying susceptible genotypes might have a significantly higher risk than those carrying non-susceptible genotypes.

p53基因第72位密码子多态性与宫颈癌及HPV-16、18E6之间关系的研究

目的探讨宫颈癌及其癌前病变中p53基因第72位密码子多态性的表达及其与HPV16、18E6表达之间的关系，以了解p58基因第72位密码子多态性是否可以作为预测宫颈癌发生的一项高危因子。方法以PCR法检测81例宫颈鳞癌（高分化13例、中分化24例、低分化44例；Ⅰb期24例、Ⅱa期15例、Ⅱb期37例、Ⅲa期5例）、18例宫颈腺癌、88例宫颈上皮内瘤样病变（CINⅡ30例、CINⅢ58例）及60例正常宫颈组织中p53基因第72位密码子多态性及HPV16、18E6的表达。结果p53Arg纯合子、p53Arg／Pro杂合子及p53Pro纯合子在宫颈鳞癌、腺癌和CIN（Ⅱ～Ⅲ）中分别占58．02％、30．86％、11．12％；55．55％、27．78％、16．67％I59．09％、21．59％、19．32％。各组中p53Arg纯合子明显高于p53Arg／Pro杂合子及p53Pro纯合子，且差异有统计学意义（P〈0．05IP〈0．01）。正常宫颈组织中p53Arg纯合子、p53Arg／Pro杂合子及p53Pro纯合子分别为23．33％、40．OO％、36．67％，三者间无统计学意义（P〉0．05）。宫颈癌组（鳞癌及腺癌）、CIN（Ⅰ～Ⅱ）组中p53Arg纯合子均高于正常对照组中p53Arg纯合子，且差异有统计学意义（P〈0．05）；宫颈鳞癌中HPVl6、18E6（＋）亚组中p53Arg纯合子显著高于HPV16、18E6（-）亚组及HPVl6、18E6（＋）正常对照组亚组（P〈0．05，P〈0．01）。各组中p53Arg纯合子均高于p53Pro纯合子（P〈0．05）；p53Arg纯合子及等位基因均未随宫颈癌临床分期及分化程度而变化，与宫颈癌前病变程度亦无关系。结论p53Arg纯合子可作为预测宫颈癌及其癌前病变的一项高危因子，与高危型HPVE6同时检测可提示宫颈病变的发展趋势；p53Arg纯合子与宫颈癌临床分期及分化程度无明显相关性。

p53、CYP1A1、GSTM1多态性组合和吸烟对前列腺癌风险的联合效应:基因型和环境相互作用的探测性研究

Aim:To assess the role of several genetic factors in combination with an environmental factor as modulators of prostate cancer risk.We focus on allele variants of low-penetrance genes associated with cell control,the detoxifica- tion processes and smoking.Methods:In a case-control study we compared people carrying p53cd72 Pro allele, CYP1A1 M1 allele and GSTM1 null genotypes with their prostate cancer risk.Results:The joint risk for smokers carrying Pro* and Ml*,Pro* and GSTMlnull or GSTM1 null and CYP1A1 Ml* variants was significantly higher (odds ratio [OR]:13.13.95% confidence interval [CI]:2.41-71.36;OR:3.97,95% CI:1.13-13.95 and OR:6.87. 95% CI:1.68-27.97,respectively)compared with that for the reference group,and for non-smokers was not significant. OR for combinations among p53cd72,GSTM1 and CYP1A1 M1 in smokers were positively and significantly associated with prostate cancer risk compared with non-smokers and compared with the putative lowest risk group(OR:8.87,95% CI:1.25-62.71).Conclusion:Our results suggest that a combination of p53cd72,CYP1A1,GSTM1 alleles and smoking plays a significant role in modified prostate cancer risk on the study population,which means that smokers carrying susceptible genotypes might have a significantly higher risk than those carrying non-susceptible genotypes.

湖南地区汉族人群p53基因第72位密码子多态性与宫颈鳞癌的相关性

目的:探讨宫颈组织p53基因第72位密码子的多态性及分析第72位密码子的多态性与湖南地区汉族人群宫颈鳞癌的相关性。方法:采用PCR方法扩增101例正常宫颈和150例宫颈鳞癌石蜡组织p53基因第72位密码子基因,回收目的片段进行测序。采用SPSS 11.5软件分析p53基因第72位密码子的多态性。结果:p53第72位密码子基因测序结果显示,在宫颈鳞癌组织中Arg/Arg、Pro/Pro、Arg/Pro所占比例分别为40.66%、16.67%、42.67%;在正常宫颈组织中Arg/Arg、Pro/Pro、Arg/Pro所占比例分别为47.53%、7.92%、44.55%。统计学分析结果显示,Arg/Arg和Arg/Pro基因型在宫颈鳞癌和对照组中的表达差异没有统计学意义(P>0.05);Pro/Pro基因型在宫颈鳞癌组中所占比例显著高于正常宫颈组织(P<0.05)。结论:p53基因第72位密码子Pro/pro基因型是湖南地区女性发生宫颈鳞癌易感因素。