Results
| PMID | 17121748 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | Eralpha (-351 XbaI*G, -397 PvuII*C) |
| Population size | 328 |
| Population details | 328 (112 severe endometriosis, 106 leiomyoma, 110 controls) |
| Sex | Female |
| Associated genes | ERalpha |
| Other associated phenotypes |
Endometriosis and leiomyoma |
|
Mol Hum Reprod. 2007 Feb;13(2):117-22. Epub 2006 Nov 22. Hsieh, Y-Y| Wang, Y-K| Chang, C-C| Lin, C-S Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung and Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan. Endometriosis and leiomyoma are both common estrogen-related gynaecological diseases. We aimed to elucidate the association of estrogen receptor alpha (ERalpha)-351 A>G (XbaI) and -397 T>C (PvuII) gene polymorphisms with endometriosis and leiomyoma. Women were divided into three groups: (i) severe endometriosis (n = 112), (ii) leiomyoma (n = 106) and (iii) normal controls (n = 110). Genomic DNA was obtained from peripheral leukocytes. ERalpha-351 A/G XbaI and -397 T/C PvuII polymorphisms were assayed by the method of PCR and restriction fragment length polymorphism (RFLP). Genotypes and allelic frequencies in each group were compared. The genotype/allele frequencies of ERalpha-351 and -397 polymorphisms in endometriosis or leiomyoma groups were different from those of normal controls. ERalpha mutant-related genotypes/alleles (-351G and -397C) presented higher percentages in the endometriosis/leiomyoma population compared with normal controls. Proportions of ERalpha-351 AA/AG/GG genotypes and A/G alleles in each group were (i) 26.8/57.1/16.1 and 55.4/44.6%; (ii) 19.8/52.8/27.4 and 46.2/53.8% and (iii) 33.6/64.6/1.8 and 65.9/34.1%. Proportions of ERalpha-397 TT/TC/CC genotypes and T/C alleles in each group were (i) 24.1/60.7/15.2 and 54.5/45.5%; (ii) 23.6/70.8/5.6 and 59/41% and (iii) 54.5/40/5.5 and 74.5/25.5%. We concluded that ERalpha-351 XbaI*G- and -397 PvuII*C-related genotypes/alleles were correlated with higher susceptibilities of endometriosis or leiomyoma, which might be associated with related pathogeneses. Mesh Terms: Adult| Alleles| Deoxyribonucleases, Type II Site-Specific| Endometriosis/*genetics| Estrogen Receptor alpha/*genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Humans| Leiomyoma/*genetics| *Polymorphism, Restriction |
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