Document Detail

Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis.
MedLine Citation:
PMID:  18178192     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor alpha gene (ER-alpha) with endometriosis in women.
DESIGN: Association study.
SETTING: Endometriosis Unit, Federal University of São Paulo.
PATIENT(S): The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or II endometriosis and the second group stage III or IV.
INTERVENTION(S): Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron 1 and exon 1 polymorphisms, respectively, in a total of 125 controls and 105 affected women.
MAIN OUTCOME MEASURE(S): Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha.
RESULT(S): No significant differences in the frequency of polymorphisms either in intron 1 or exon 1 of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore, the frequency of ER-alpha polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron 1 single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon 1 SNP and endometriosis was 0.976.
CONCLUSION(S): The evaluated polymorphisms were not associated with endometriosis.
Hélio Sato; Naiara C Nogueira-de-Souza; Paulo D'Amora; Ismael D C G Silva; Manoel J B C Girão; Eduardo Schor
Publication Detail:
Type:  Journal Article     Date:  2008-01-07
Journal Detail:
Title:  Fertility and sterility     Volume:  90     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-01     Completed Date:  2008-12-23     Revised Date:  2011-04-21    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2086-90     Citation Subset:  IM    
Universidade Federal de São Paulo, São Paulo, Brazil.
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MeSH Terms
Case-Control Studies
Endometriosis / genetics*
Estrogen Receptor alpha / genetics*
Gene Frequency
Genetic Predisposition to Disease
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide*
Risk Assessment
Reg. No./Substance:
0/Estrogen Receptor alpha; 0/estrogen receptor alpha, human

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