Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 26493553
Gene Name TP53
Condition Endometriosis
Association Associated
Mutation p53 Arg72Pro polymorphism
Population size 4165
Population details 4165 (1834 endometriosis cases, 2331 controls)
Sex Female
Other associated phenotypes Endometriosis
p53 Arg72Pro polymorphism confers the susceptibility to endometriosis among Asian and Caucasian populations.

Arch Gynecol Obstet. 2016 May;293(5):1023-31. doi: 10.1007/s00404-015-3923-7.

Lao, Xianjun| Chen, Zhiping| Qin, Aiping

Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, Guangxi Zhuang Autonomous Region, China. laoxj1031@163.com.| Department of Occupational Health and Environmental Health, School of Public Heal

PURPOSE: Findings from studies on the association between the p53 Arg72Pro polymorphism and endometriosis susceptibility have so far been inconsistent. Therefore, we undertook a meta-analysis to clarify the association of p53 Arg72Pro polymorphism with the risk of endometriosis. METHODS: Relevant studies were chosen by searching PubMed, Embase, the Cochrane Library databases, CNKI, Wanfang database, and CBM for articles published before and up to April 30, 2015. Two independent reviewers performed the eligibility evaluation and data extraction. The odds ratios (ORs) and 95 % confidence intervals (CIs) were calculated for the overall risk estimate. RESULTS: Eleven case-control studies involving 1834 endometriosis cases and 2331 controls were included. Pooled data analysis suggested that the p53 72Pro variant is a significant endometriosis risk factors in comparison to the 72Arg variant (Pro vs. Arg: OR = 1.298, 95 % CI 1.082-1.558; Pro/Pro vs. Arg/Arg: OR = 1.751, 95 % CI 1.130-2.711; Pro/Arg vs. Arg/Arg: OR = 1.530, 95 % CI 1.174-1.994), which was strengthened in the dominant model (Pro/Pro + Arg/Pro vs. Arg/Arg: OR = 1.570, 95 % CI = 1.181-2.087). In the stratified analysis by ethnicity and Hardy-Weinberg equilibrium (HWE) in the controls, we found strong associations in Asians and in studies that were consistent with HWE. However, the analyses of the revised American Fertility Society (rAFS) stage and the menopausal status subgroup did not reveal any significant associations. CONCLUSION: In conclusion, the p53 Arg72Pro polymorphism was closely related to the risk of endometriosis, especially in Asian populations.

Mesh Terms: Asian Continental Ancestry Group/*genetics| Case-Control Studies| Endometriosis/ethnology/*genetics| European Continental Ancestry Group/*genetics| Female| Genetic Predisposition to Disease| Humans| Odds Ratio| Polymorphism, Single Nucleotide/*gen