Results
| PMID | 23744327 |
| Gene Name | TP53 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | p53 (rs1042522(G/C)) |
| Population size | 1102 |
| Population details | 1102 (460 EM patients, 113 patients with endometrial carcinoma and 530 matched unrelated controls) |
| Sex | Female |
| Associated genes | P53 |
| Other associated phenotypes |
Endometriosis |
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):335-9. doi: Huang, Yuxin| Zong, Lili| Lin, Jianghai| Fu, Yonggui| Liu, Zehuan| Mao, Ting| Zeng, Jun| Wang, Yufeng| Zhao, Xin Department of Gynecology and Obstetrics, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong 510282, P.R. China. OBJECTIVE: To assess the association of a single nucleotide polymorphism(SNP) in tumor suppressor gene P53 with the risk of endometriosis (EM) in Han Chinese women. METHODS: For 460 EM patients, 113 patients with endometrial carcinoma and 530 matched unrelated controls, a rs1042522(C/G) SNP of the P53 gene was genotyped by polymerase chain reaction-single strand polymorphism (PCR-SSP) and DNA sequencing. RESULTS: A significant difference has been detected in the distribution of rs1042522 alleles and genotypes between the EM patients and controls (P< 0.01). Allele G has increased the risk of EM by 1.209 times, while allele C has reduced this risk by 0.837 times. Compared with GG genotype, GC and CC genotypes have both increased the risk for EM (OR=2.073, 95%CI: 1.521-2.820, and OR=1.930, 95%CI: 1.363-2.733, respectively). Significant differences were also detected in the distribution of rs1042522 alleles and genotypes between endometrial carcinoma patients and controls (P< 0.01). Allele G has increased the risk to endometrial carcinoma by 1.311 times, while allele C has reduced this risk by 0.757 times. Compared with GG genotypes, individuals with GC and CC genotypes are more likely to be affected with endometrial carcinoma (OR=2.778, 95%CI: 1.585-4.870, and OR=2.864, 95%CI: 1.557-5.263, respectively). CONCLUSION: Our study has suggested a significant association between the rs1042522(G/C) polymorphism and susceptibility to EM in Han Chinese women. The mechanism of EM is similar to carcinoma from genetics point of view. Mesh Terms: Alleles| Asian Continental Ancestry Group| Base Sequence| China| Endometrial Neoplasms/genetics| Endometriosis/*genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Humans| Odds Ratio| *Polymorphism, Single Nucleotid |
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