Huang Xin-En, Hamajima Nobuyuki, Katsuda Nobuyuki, Matsuo Keitaro, Hirose Kaoru, Mizutani Mitsuhiro, Iwata Hiroji, Miura Shigeto, Xiang Jin, Tokudome Shinkan, Tajima Kazuo
Department of Health Promotion and Preventive Medicine, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-ku, Nagoya 467-8601, Japan.
Breast Cancer. 2003;10(4):307-11. doi: 10.1007/BF02967650.
The association between breast cancer risk and genetic polymorphisms of p53 at codon 72 (Arg72Pro) has been investigated by several studies, but the results are not consistent. The aim of this case-control study conducted in Nagoya, Japan, was to reconfirm the results of prior studies of polymorphisms of p53 Arg72Pro, and to test if polymorphisms of p73 G4C14-to-A4T14 at exon 2 (G4A) were also associated with breast cancer risk.
The cases were 200 breast cancer patients who visited Aichi Cancer Center Hospital. The controls were 282 local citizens who underwent a health check-up. All cases and controls were recruited from Chubu Japan. Genotyping was carried out by polymerase chain reaction with confronting two-pair primers.
The p53 genotype distribution was 40.4% for Arg72 homozygous, 48.9% for heterozygous, and 10.7% for Pro72 homozygous in controls, and 32.0%, 50.0%, and 18.0% in cases, respectively. A comparison between cases and controls indicated a significantly increased risk for Pro72 homozygosity in cases (odds ratio=2.14; 95% confidence interval=1.21-3.79). The genotypic frequencies for p73 G4A were 54.3% for G/G, 39.7% for G/A, and 6.0% for A/A in controls; and 59.0%, 32.0%, and 9.0% in cases, respectively. There were no significant differences in p73 G4A frequency between cases and controls.
This study implies an association of breast cancer risk with the p53 polymorphism Arg72Pro, but not with p73 G4A.
多项研究探讨了乳腺癌风险与p53基因第72密码子（Arg72Pro）的基因多态性之间的关联，但结果并不一致。在日本名古屋开展的这项病例对照研究旨在再次确认此前关于p53 Arg72Pro多态性研究的结果，并检验外显子2处p73 G4C14到A4T14（G4A）的多态性是否也与乳腺癌风险相关。
病例组为200名前往爱知癌症中心医院就诊的乳腺癌患者。对照组为282名接受健康体检的当地居民。所有病例和对照均来自日本中部地区。采用两对引物扩增阻滞突变系统聚合酶链反应进行基因分型。
对照组中p53基因型分布为：Arg72纯合子占40.4%，杂合子占48.9%，Pro72纯合子占10.7%；病例组中分别为32.0%、50.0%和18.0%。病例组与对照组比较显示，病例组中Pro72纯合子的风险显著增加（比值比=2.14；95%置信区间=1.21 - 3.79）。对照组中p73 G4A的基因型频率为：G/G占54.3%，G/A占39.7%，A/A占6.0%；病例组中分别为59.0%、32.0%和9.0%。病例组与对照组之间p73 G4A频率无显著差异。
本研究提示乳腺癌风险与p53多态性Arg72Pro相关，但与p73 G4A无关。
