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.
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.


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
Silva
Ian Victor
IV
Programa de Pós-Graduação em Biotecnologia/RENORBIO, Universidade Federal do Espírito Santo, Vitória, Espírito Santo, Brazil.
Rezende
Lucas Cunha Dias
LC
Lanes
Silvania Pereira
SP
Souza
Letícia Soncini
LS
Madeira
Klesia Pirola
KP
Cerri
Murilo Fanchiotti
MF
Paes
Marcela Ferreira
MF
Daltoé
Renata Dalmaschio
RD
Chambô-Filho
Antônio
A
Guimarães
Marco César Cunegundes
MC
Graceli
Jones Bernardes
JB
Rangel
Leticia Batista Azevedo
LB
D000022:Abortion, Spontaneous / Q000235:genetics*; D000367:Age Factors; D000368:Aged; D016009:Chi-Square Distribution; D003430:Cross-Sectional Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005298:Fertility / Q000235:genetics; D005838:Genotype; D006801:Humans; D008572:Menarche / Q000235:genetics; D008593:Menopause / Q000235:genetics; D008875:Middle Aged; D010298:Parity / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause; D011247:Pregnancy
D047628:Estrogen Receptor alpha