Evaluation of PvuII and XbaI polymorphisms in the estrogen receptor alpha gene (ESR1) in relation to menstrual cycle timing and reproductive parameters in post-menopausal women

Evaluation of PvuII and XbaI polymorphisms in the estrogen receptor alpha gene (ESR1) in relation to menstrual cycle timing and reproductive parameters in post-menopausal women

Abstract Objective : To evaluate the association of −397T>C and −351A>G single nucleotide polymorphisms (SNPs) – also called PvuII and XbaI, respectively – located on estrogen receptor alpha (ERS1) gene with age at menarche, menopause onset, fertility and miscarriage in a population of post-me...

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Bibliographic Details
Published in:Maturitas Vol. 67; no. 4; pp. 363 - 367
Main Authors: Silva, Ian Victor, Rezende, Lucas Cunha Dias, Lanes, Silvania Pereira, Souza, Letícia Soncini, Madeira, Klesia Pirola, Cerri, Murilo Fanchiotti, Paes, Marcela Ferreira, Daltoé, Renata Dalmaschio, Chambô-Filho, Antônio, Guimarães, Marco César Cunegundes, Graceli, Jones Bernardes, Rangel, Leticia Batista Azevedo
Format: Journal Article
Language:English
Published: Shannon Elsevier Ireland Ltd 01-12-2010
Elsevier
Subjects:
Abortion, Spontaneous - genetics
Age Factors
Aged
Biological and medical sciences
Chi-Square Distribution
Cross-Sectional Studies
Estrogen receptor
Estrogen Receptor alpha - genetics
Female
Fertility - genetics
Genotype
Gynecology. Andrology. Obstetrics
Humans
Internal Medicine
Medical sciences
Menarche
Menarche - genetics
Menopause
Menopause - genetics
Middle Aged
Obstetrics and Gynecology
Parity - genetics
Polymorphism
Polymorphism, Single Nucleotide
Postmenopause
Pregnancy
Puberal and climacteric disorders (male and female)
Reproduction
Menarche
Estrogen receptor
Reproduction
Menopause
Polymorphism
Human
Evaluation
Menstrual cycle
Estrogen receptor α
Gene
Genetics
Female
Single nucleotide polymorphism
Woman
Hormonal receptor
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Summary:Abstract Objective : To evaluate the association of −397T>C and −351A>G single nucleotide polymorphisms (SNPs) – also called PvuII and XbaI, respectively – located on estrogen receptor alpha (ERS1) gene with age at menarche, menopause onset, fertility and miscarriage in a population of post-menopausal women. Study design : Cross-sectional study with 273 healthy, high miscegenated, post-menopausal women (mean age of 63.1 ± 9.7 years old). Subjects were genotyped for PvuII and XbaI SNPs by PCR-RFLP and confirmed by automatic sequencing. Reproduction informations (age at menarche, age at menopause, number of pregnancies, fertility rate and miscarriages) were obtained by retrospective study using a questionnaire. Result(s) : Age at menarche, menopause onset, number of pregnancies, total fertility rate, and parity did not seem to be influenced by any of the studied genotypes (chi-square, p > 0.05). However, women carrying the xx genotype showed a 44% higher chance of miscarriage, whereas this value did not trespass 16% for any other genotype analyzed. It has been also observed a higher occurrence of miscarriage in association with combined xxpp genotype of ERS1 gene (chi-square, p < 0.01). Conclusion(s) : The present data indicate that the studied SNPs on ERS1 gene do not influence the menstrual cycle timing and parity but there is a strong relationship between the xx ERS1 SNP genotype and the incidence of miscarriage in the post-menopausal population analyzed.
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ISSN:0378-5122
1873-4111
DOI:10.1016/j.maturitas.2010.08.006