Hum. Reprod. Advance Access originally published online on November 11, 2004
Human Reproduction 2005 20(2):536-542; doi:10.1093/humrep/deh600
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No association of estrogen receptor 
and cytochrome P450c17 polymorphisms with age at menopause in a Dutch cohort
1 Julius Center for Health Sciences and Primary Care, 2 Department of Medical Genetics and 3 Department of Reproductive Medicine, University Medical Center Utrecht, The Netherlands
4 To whom correspondence should be addressed at: Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, HPnr Str. 6.131, P.O.Box 85060, 3508 BA Utrecht, The Netherlands. Email: y.t.vanderschouw{at}umcutrecht.nl
BACKGROUND: Age at menopause is under strong genetic control. So far, genetic variations of only one gene, the PvuII polymorphism of the estrogen receptor 
(ER) gene, have been shown to be associated with age at onset of menopause. This study aims to investigate whether PvuII, XbaI and B-variant polymorphisms of the ER gene, and the MspAI polymorphism of the cytochrome P450c17 (CYP17) gene are associated with age at menopause in a Dutch cohort. METHODS: DNA was isolated from urine samples of 385 Caucasian women with natural menopause and the genotypes of the four polymorphisms were determined. A questionnaire was used for background characteristics. The genotypes of PvuII, XbaI, MspAI were obtained by PCR restriction fragment length polymorphism analysis. The B-variant was determined with an allele-specific oligonucleotide hybridization method. Two-sided t-tests were performed to assess the association between the four polymorphisms and menopausal age. The PvuII and XbaI polymorphisms were analysed separately as well as in a combined score. RESULTS: The results show that none of the polymorphisms independently, nor the combined genotypes for PvuII and XbaI, were associated with age at natural menopause. CONCLUSION: No evidence was found for a relationship between common variants of the ER gene and the CYP17 gene with age at natural menopause.
Key words:
age at menopause/association study/cytochrome P450c17/estrogen receptor a/polymorphism
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