Mol. Hum. Reprod. Advance Access published online on November 22, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gal099
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1 Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung; Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan
* To whom correspondence should be addressed. Endometriosis and leiomyoma are both common estrogen-related gynaecological diseases. We aimed to elucidate the association of estrogen receptor *These authors contributed equally to this article.
Received September 3, 2006
Accepted October 15, 2006
Article
Estrogen receptor
Y.-Y. Hsieh 1 *, Y.-K. Wang 2 *, C.-C. Chang 2, and C.-S. Lin 3 *
-351 XbaI*G and -397 PvuII*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma
2 Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung
3 Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan
C.-S. Lin, E-mail: lincs.biotech{at}msa.hinet.net
Abstract 
(ER)-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. ER-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 ER-351 and -397 polymorphisms in endometriosis or leiomyoma groups were different from those of normal controls. ER mutant-related genotypes/alleles (-351G and -397C) presented higher percentages in the endometriosis/leiomyoma population compared with normal controls. Proportions of ER-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 ER-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 ER-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.
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