Results
| PMID | 16169423 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | PvuII, XbaI, and thymine-adenine (TA) repeat polymorphisms |
| Sex | Female |
| Associated genes | ER-alpha |
| Other associated phenotypes |
Minimal or mild endometriosis |
|
Fertil Steril. 2005 Sep;84(3):774-7. Kim, Sung Hoon| Choi, Young Min| Jun, Jong Kwan| Kim, Seok Hyun| Kim, Jung Gu| Moon, Shin Yong Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, South Korea. The present study was designed to explore the association between estrogen receptor-alpha gene polymorphism and the risk of endometriosis by investigating the frequency of PvuII, XbaI, and thymine-adenine (TA) repeat polymorphisms in patients with and without endometriosis in a Korean population. Although there was no significant difference in the allele distribution and frequency of either PvuII or XbaI polymorphisms between endometriosis patients and control subjects, patients with stage I/II endometriosis showed a higher incidence of alleles with fewer (TA)n repeats (12-15 repeats) compared with controls. Mesh Terms: Adult| Alleles| Asian Continental Ancestry Group/genetics| Dinucleotide Repeats/*genetics| Endometriosis/*genetics/physiopathology| Estrogen Receptor alpha/*genetics| Female| Humans| Korea| Middle Aged| Odds Ratio| *Polymorphism, Genetic|DA 200 |
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