title: Estrogen receptor alpha-351 XbaI*G and -397 PvuII*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung and Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan.
authors.forename: Y-Y
authors.initials: YY
authors.lastname: Hsieh
authors.forename: Y-K
authors.initials: YK
authors.lastname: Wang
authors.forename: C-C
authors.initials: CC
authors.lastname: Chang
authors.forename: C-S
authors.initials: CS
authors.lastname: Lin
mesh_terms: D000328:Adult; D000483:Alleles; D015252:Deoxyribonucleases, Type II Site-Specific; D004715:Endometriosis / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014591:Uterine Diseases / Q000235:genetics*
chemical_list: D047628:Estrogen Receptor alpha; C025580:endodeoxyribonuclease XBAI; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific