Mol. Hum. Reprod. Advance Access originally published online on November 22, 2006
Molecular Human Reproduction 2007 13(2):117-122; doi:10.1093/molehr/gal099
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Estrogen receptor 
-351 XbaI*G and -397 PvuII,*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma
1Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung and 2Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan
3 To whom correspondence should be addressed at: Department of Biological Science and Technology, National Chiao Tung University, 75 Po-Ai Street, Hsinchu 300, Taiwan. E-mail: lincs.biotech{at}msa.hinet.net and lincs{at}cc.nctu.edu.tw
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Abstract |
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Endometriosis and leiomyoma are both common estrogen-related gynaecological diseases. We aimed to elucidate the association of estrogen receptor 
(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.
Key words: endometriosis/estrogen receptor/leiomyoma/polymorphism/single-nucleotide polymorphism
* These authors contributed equally to this article.
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