title: Polymorphisms of p53 codon 72 and MDM2 promoter 309 and the risk of endometrial cancer.
abstract: Genetic polymorphisms of p53 and its negative regulator murine double minute 2 homolog (MDM2) have been shown to be closely associated with tumorigenesis in a variety of human cancers. In the present study, single nucleotide polymorphism (SNP) at p53 codon 72 and MDM2 promoter 309 was examined for germline DNA samples from 102 endometrial cancer cases and 95 controls using polymerase chain reaction-based fragment analysis. There were no significant differences in the genotype and allele prevalence between control subjects and endometrial cancer patients for p53 codon 72. The GG genotype frequency of MDM2-SNP309 was statistically higher in endometrial cancer patients than that in normal healthy women when compared with the TG genotype (P= 0.0088). However, no statistically significant differences were found between the TT and TG or GG genotype frequencies and allele prevalence. Interestingly, the combination of the homozygous Arg/Arg genotype of p53 codon 72 and homozygous GG genotype of MDM2 SNP309 polymorphisms was significantly associated with the risk of endometrial cancer (odds ratio = 3.28, 95% confidence interval = 1.13 to 9.53, P= 0.0212). The homozygous variants of wild p53 codon 72 and mutant MDM2 promoter 309 may cooperatively increase the risk of endometrial cancer in a Japanese population.
authors.affiliation: Department of Medical Technology, Kobe Tokiwa University, Hyogo, Japan. o-nunobiki@kobe-tokiwa.ac.jp
authors.forename: Osamu
authors.initials: O
authors.lastname: Nunobiki
authors.forename: Masatsugu
authors.initials: M
authors.lastname: Ueda
authors.forename: Michiko
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Eisaku
authors.initials: E
authors.lastname: Toji
authors.forename: Naomi
authors.initials: N
authors.lastname: Sato
authors.forename: Shinji
authors.initials: S
authors.lastname: Izuma
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Kiyo
authors.initials: K
authors.lastname: Torii
authors.forename: Sadamu
authors.initials: S
authors.lastname: Noda
mesh_terms: D044466:Asian People; D003062:Codon / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics*; D012306:Risk
chemical_list: D003062:Codon; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2