Estrogen receptor alpha polymorphisms and fertility in populations with different reproductive patterns.

Mol Hum Reprod

Department of Genetics and Molecular Biology, University La Sapienza, P.le A. Moro 5, 00185 Rome, Italy.

Published: August 2007

AI Article Synopsis

  • The estrogen receptor (ER), particularly ER-alpha, is crucial for reproductive function, and its gene (ESR1) polymorphisms have connections to fertility issues.
  • In a study involving healthy Italian men and women and African-Ecuadorian women, specific ESR1 genotypes were associated with higher fertility, revealing a potential genetic influence on reproductive success.
  • These findings contribute to our understanding of how genetic variations in the ESR1 gene affect reproductive behaviors across different populations.

Article Abstract

The estrogen receptor (ER) plays an important role in mediating estrogen action on target tissues. ER-alpha, the most abundant, is found in all human reproductive tissues and studies on alpha-ER knockout mice have highlighted its role in reproduction. ER-alpha gene (ESR1) polymorphisms have been associated with a variety of disorders including human infertility. In this study, we examined the association of ESR1 PvuII and XbaI polymorphisms with fertility in two populations with different reproductive patterns and precisely in a sample of healthy Italian men and women (n=178) and in a sample of healthy African-Ecuadorian women (n=57). ESR1 xx and ppxx genotypes among the Italian men were found to be associated with an above-median number of children (P=0.01 and P=0.004, respectively). ESR1 pp genotype among the Italian women showed a tendency to be associated with a lower number of abortions (P=0.04), whereas ESR1 pp and ppxx genotypes among African-Ecuadorian women were associated with a higher number of children (P=0.02 and P=0.03, respectively). These results are consistent with previous observations indicating a role of ESR1 genotypes in human infertility and give insight into the complex interactions between genotypes and reproductive behaviours in human populations.

Download full-text PDF

Source
http://dx.doi.org/10.1093/molehr/gam041DOI Listing

Publication Analysis

Top Keywords

estrogen receptor
8
polymorphisms fertility
8
fertility populations
8
populations reproductive
8
reproductive patterns
8
human infertility
8
sample healthy
8
italian men
8
african-ecuadorian women
8
esr1 ppxx
8

Similar Publications

High molecular weight hyaluronan (HMWH) inhibits hyperalgesia induced by diverse pronociceptive inflammatory mediators and their second messengers, in rats of both sexes. However, the hyperalgesia induced by ligands at 3 pattern recognition receptors, lipopolysaccharide (a toll-like receptor 4 agonist), lipoteichoic acid (a toll-like receptor 2/6 agonist), and nigericin (a NOD-like receptor family, pyrin domain containing 3 activator), and oxaliplatin and paclitaxel chemotherapy-induced peripheral neuropathy are only attenuated in males. After gonadectomy or intrathecal administration of an antisense to G-protein-coupled estrogen receptor 30 (GPER) mRNA, HMWH produces antihyperalgesia in females.

View Article and Find Full Text PDF

The regulation of cell physiology depends largely upon interactions of functionally distinct proteins and cellular components. These interactions may be transient or long-lived, but often affect protein motion. Measurement of protein dynamics within a cellular environment, particularly while perturbing protein function with small molecules, may enable dissection of key interactions and facilitate drug discovery; however, current approaches are limited by throughput with respect to data acquisition and analysis.

View Article and Find Full Text PDF

Importance: Heterogeneity in development of estrogen receptor (ER)-specific first primary breast cancer exists due to deleterious germline variants in moderate- to high-penetrance breast cancer susceptibility genes, but it is unknown if these associations occur in ER-specific CBC.

Objective: To determine the association of deleterious germline variants in breast cancer susceptibility genes with ER-specific CBC development and whether ER status of the first primary breast cancer modifies these associations.

Design, Setting, And Participants: This case-control study included CBC cases and matched unilateral breast cancer controls from The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study, a population-based case-control study.

View Article and Find Full Text PDF

Elucidating the Role of Estrogen Effects in Leukemia: Insights from Single-Cell RNA Sequencing and Mendelian Randomization.

J Cancer

January 2025

State Key Laboratory of Quality Research in Chinese Medicine, and Faculty of Chinese Medicine, Macau University of Science and Technology, Avenida Wai Long, Taipa, 999078, Macau, China.

Epidemiological studies have confirmed the potential role of estrogen effects in influencing the development and outcome of leukemia. Estrogen effects are increasingly attracting research interest for their potential antitumor effects beyond gynecological tumors. However, their causal relationship remains unclear.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!