Results
| PMID | 15749482 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ER alpha* 14 TA repeats, CYP17* A1 |
| Population size | 221 |
| Population details | 221 (119 women with endometriosis, 108 controls) |
| Sex | Female |
| Associated genes | ER alpha, CYP17 |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2005 Mar;83(3):567-72. Hsieh, Yao-Yuan| Chang, Chi-Chen| Tsai, Fuu-Jen| Lin, Cheng-Chieh| Tsai, Chang-Hai Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. OBJECTIVE: To investigate the association of endometriosis with estrogen receptor alpha (ER alpha) and cytochrome P450c17alpha (CYP17) gene polymorphisms in light of the fact that estrogen plays a role in the pathogenesis of endometriosis and the CYP17 enzyme is involved with estrogen biosynthesis. DESIGN: Prospective study. SETTING: Genetics and gynecology units. PATIENT(S): All patients were divided into two groups: group 1, women with endometriosis (n = 119); group 2, normal controls (n = 108). INTERVENTION(S): A dinucleotide (thymine-adenine [TA]) repeat polymorphism lying upstream of the ER alpha gene and A1/A2 polymorphism of the CYP17 gene were amplified by polymerase chain reaction, enzyme restriction, and electrophoresis. MAIN OUTCOME MEASURE(S): The ER genotypes were classified into A through T (TA repeats, 10-29). The CYP17 genotypes included indigestible (A1 homozygote), heterozygote, and digestible (A2 homozygote). We compared these polymorphism distributions in both groups. RESULT(S): The percentage of genotypes D-G (TA, 13-16) in both groups were 10.5%, 29.4%, 13.0%, and 11.3% in group 1 and 7.9%, 16.7%, 19.9%, and 17.6% in group 2. The genotype E (14 TA repeats) is associated with a higher risk of endometriosis. Proportions of A1 homozygote/heterozygote/A2 homozygote for CYP17 were 26.1%/46.2%/27.7% for group 1 and 14.8%/44.5%/40.7% for group 2, respectively. The A1 homozygote and allele were associated with a higher susceptibility of endometriosis. CONCLUSION(S): ER alpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility. Mesh Terms: Dinucleotide Repeats| Endometriosis/*epidemiology/*genetics| Estrogen Receptor alpha/*genetics| Female| Genetic Predisposition to Disease/epidemiology| Genotype| Heterozygote| Homozygote| Humans| *Polymorphism, Single Nucleotide| Risk Factors| |
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