Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 11779589
Gene Name TP53
Condition Endometriosis
Association Associated
Mutation p53 codon 72 polymorphisms
Population size 258
Population details 258 (118 having moderate or severe endometriosis, 140 with no endometriosis)
Sex Female
Associated genes p53
Other associated phenotypes Endometriosis
The proline form of p53 codon 72 polymorphism is associated with endometriosis.

Fertil Steril. 2002 Jan;77(1):43-5.

Chang, Chi Chen| Hsieh, Yao Yuan| Tsai, Fuu Jen| Tsai, Chang Hai| Tsai, Horng Der| Lin, Cheng Chieh

Department of Obstetrics and Gynecology, China Medical College Hospital, Taichung, Taiwan.

OBJECTIVE: To evaluate the association between endometriosis and the p53 polymorphism. DESIGN: Prospective study. SETTING: Department of gynecology and genetics in a medical center. PATIENT(S): Women with and without endometriosis. INTERVENTION(S): Women were categorized as having moderate or severe endometriosis (n = 118) or no endometriosis (n = 140). MAIN OUTCOME MEASURE(S): Polymerase chain reaction was used to detect p53 codon 72 polymorphisms (arginine homozygosity, heterozygosity, and proline homozygosity). Associations between endometriosis and p53 polymorphisms were evaluated. RESULT(S): The distributions of different p53 polymorphisms differed significantly between groups. The respective proportions of arginine homozygotes, heterozygotes, and proline homozygotes were 10.2%, 66.9%, and 22.9% in the group with endometriosis and 30.7%, 50%, and 19.3% in the group without endometriosis. CONCLUSION(S): Endometriosis is associated with p53 polymorphism. p53 arginine homozygotes have lower risk for endometriosis. Heterozygotes and proline homozygotes have higher risk for endometriosis.

Mesh Terms: Amino Acid Substitution| Asian Continental Ancestry Group| Codon/*genetics| Endometriosis/*genetics/surgery| Female| *Genes, p53| Genotype| Humans| Polymerase Chain Reaction| *Polymorphism, Genetic| *Proline| Reference Values| Taiwan| Tumor S