標題: Estrogen receptor alpha-351 XbaI*G and -397 PvuII*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma
作者: Hsieh, Y. -Y.
Wang, Y. -K.
Chang, C. -C.
Lin, C. -S.
生物科技學系
Department of Biological Science and Technology
關鍵字: endometriosis;estrogen receptor;leiomyoma;polymorphism;single-nucleotide polymorphism
公開日期: 1-Feb-2007
摘要: Endometriosis and leiomyoma are both common estrogen-related gynaecological diseases. We aimed to elucidate the association of estrogen receptor alpha (ER alpha)-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 alpha-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 alpha-351 and -397 polymorphisms in endometriosis or leiomyoma groups were different from those of normal controls. ER alpha mutant-related genotypes/alleles (-351G and -397C) presented higher percentages in the endometriosis/leiomyoma population compared with normal controls. Proportions of ER alpha-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 alpha-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 alpha-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.
URI: http://dx.doi.org/10.1093/molehr/gal099
http://hdl.handle.net/11536/11187
ISSN: 1360-9947
DOI: 10.1093/molehr/gal099
期刊: MOLECULAR HUMAN REPRODUCTION
Volume: 13
Issue: 2
起始頁: 117
結束頁: 122
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