Background: Age at menopause is under strong genetic control. So far, genetic variations of only one gene, the PvuII polymorphism of the estrogen receptor alpha (ERalpha) 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 ERalpha gene, and the MspAI polymorphism of the cytochrome P450c17alpha (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 ERalpha gene and the CYP17 gene with age at natural menopause.
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http://dx.doi.org/10.1093/humrep/deh600 | DOI Listing |
J Orthop Surg Res
September 2024
The Seventh Affiliated Hospital of Sun Yat-sen University, No. 628, Zhenyuan Road, Xinhu Street, Guangming District, Shenzhen City, Guangdong Province, China.
Background: There have been some studies on the occurrence of ESR1 and 2 polymorphisms and AIS, but some data extraction is wrong, and there are no studies on the progress of AIS.
Methods: Computer searches were conducted on PubMed, EMBASE, ScienceDirect and Scopus from the establishment of the database to April 2024. Cross-sectional and case-control studies on estrogen receptor ESR1, two single nucleotide polymorphisms, and the occurrence and development of AIS were collected, and statistical analysis was performed using the Revman 5.
J Mol Neurosci
September 2024
Clinical and Chemical Pathology Department, Faculty of Medicine, Suez Canal University, Ring Road, Ismailia, 41522, Egypt.
Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the association of estrogen receptor-α (ESR1) and aryl hydrocarbon receptor (AHR) SNPs with IS in a small Egyptian population of IS patients.
View Article and Find Full Text PDFCureus
May 2024
Obstetrics and Gynecology, Selcuk University Medicine, Konya, TUR.
Objective This study aimed to investigate follicle-stimulating hormone receptor (FSHR) polymorphisms (Thr307Ala and Asn680Ser), estrogen receptor 1 (ESR1) polymorphisms (PvuII and XbaI), and ESR2 polymorphisms (RsaI and AluI) in Turkish women with follicle-stimulating hormone (FSH) and anti-Mullerian hormone (AMH) discordance. Method Genotyping was performed in 60 patients aged 21-35 with FSH-AMH discordance and/or low ovarian reserve and 20 age-matched controls with normal FSH and AMH levels. The patients were investigated in four groups of 20 women according to their FSH and AMH levels.
View Article and Find Full Text PDFPurpose: Estrogen receptor (ER) genes play key roles in male and female reproduction. Non-obstructive azoospermia (NOA) and severe secretory oligozoospermia (SOL) are the most severe and complex conditions impacting male fertility. This meta-analysis aimed to study the association between PvuII ( rs2234693, 397T>C ), XbaI ( rs9340799, 351G>A ), AluI (1730G>A, rs4986938), and RsaI (1082G>A, rs1256049) polymorphisms and spermatogenic failure.
View Article and Find Full Text PDFEgypt J Immunol
April 2024
Department of Clinical Oncology and Nuclear Medicine, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
Breast cancer is the most malignant tumor among women in the world. Single nucleotide polymorphisms (SNPs) might better predict breast cancer prognosis. PvuII (T/C substitution), XbaI (A/G substitution), and aryl hydrocarbon (AhR) (G/A substitution) were evaluated as possible genetic prognostic factors for breast cancer.
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