Oestrogen receptor α gene polymorphisms, insomnia, and cognitive functions in perimenopausal and postmenopausal women in non-manual employment

Bojar, Iwona; Raczkiewicz, Dorota; Gujski, Mariusz; Humeniuk, Ewa; Wdowiak, Artur; Owoc, Alfred; Pinkas, Jarosław

doi:10.5114/aoms.2020.94977

Cited by 3 publications

(2 citation statements)

References 55 publications

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“…Also, the oestrogen receptor gene ( ESR1 ) was studied in relation to insomnia in 300 women. The results indicate an important role of oestrogen receptor‐α gene polymorphism in the modulation of the effect of insomnia on cognitive functions in peri‐ and post‐menopausal women (Bojar et al, 2022). Mithani et al (2021) studied RNA sequencing transcriptomic changes and found that insomnia has differentially expressed genes related to inflammation, ubiquity, and oxidative stress when compared to good sleepers.…”

Section: Resultsmentioning

confidence: 97%

Potential genetic and epigenetic mechanisms in insomnia: A systematic review

Palagini

Geoffroy

Gehrman

et al. 2023

Journal of Sleep Research

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SummaryInsomnia is a stress‐related sleep disorder conceptualised within a diathesis‐stress framework, which it is thought to result from predisposing factors interacting with precipitating stressful events that trigger the development of insomnia. Among predisposing factors genetics and epigenetics may play a role. A systematic review of the current evidence for the genetic and epigenetic basis of insomnia was conducted according to Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) system. A total of 24 studies were collected for twins and family heritability, 55 for genome‐wide association studies, 26 about candidate genes for insomnia, and eight for epigenetics. Data showed that insomnia is a complex polygenic stress‐related disorder, and it is likely to be caused by a synergy of genetic and environmental factors, with stress‐related sleep reactivity being the important trait. Even if few studies have been conducted to date on insomnia, epigenetics may be the framework to understand long‐lasting consequences of the interaction between genetic and environmental factors and effects of stress on the brain in insomnia. Interestingly, polygenic risk for insomnia has been causally linked to different mental and medical disorders. Probably, by treating insomnia it would be possible to intervene on the effect of stress on the brain and prevent some medical and mental conditions.

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Section: Resultsmentioning

confidence: 97%

Potential genetic and epigenetic mechanisms in insomnia: A systematic review

Palagini

Geoffroy

Gehrman

et al. 2023

Journal of Sleep Research

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“…For women, consultations during the perimenopausal and menopausal periods are an ideal opportunity to assess the cardiovascular risk. Early menopause is generally referred to the superior risk of CVD and this factor should be a strong warning sign during a medical consultation [ 61 , 62 ]. As perimenopause is a time of significant deleterious cardiovascular changes, new research may focus on estimating when a woman will pass the FMP.…”

Section: Discussionmentioning

confidence: 99%

Menopause and women’s cardiovascular health: is it really an obvious relationship?

et al. 2022

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Cardiovascular diseases are common for women and men but there are differences between the sexes in terms of clinical symptoms, pathophysiology and response to the treatment. CVD in women is commonly underdiagnosed and often women tend to have a lower perception of the risk. That can lead to delayed diagnosis and failed recognition of symptoms. Women develop heart disease later than men because of the protection that exists in the reproductive phase of their life. Once they enter menopause the risk increases. Estrogen provides a protective effect against heart disease in women. Therefore, the risk of CVD increases after menopause in most cases. Presented work emphasizes the importance of the menopausal period as the time of increasing CVD risk. Emphasize the importance of monitoring the health of women in their middle age, a critical time in which early intervention strategies should be implemented to reduce the risk of CVD.

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Pvuii (Rs2234693) Polymorphism of the Estrogen Receptor Alpha Gene in Women From Sumy Oblast, Ukraine, With Endometrial Hyperplastic Process

Tsyndrenko,

Romaniuk

2024

EUMJ

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Introduction. The endometrial hyperplastic process is an estrogen-dependent benign condition of the uterus, which is frequently a cause of infertility, ovarian-menstrual cycle disorders, and malignant transformation into uterine cancer. The effect of estrogen on the endometrium is realized through the estrogen receptor alpha. It is manifested by a whole range of biological changes, including cell reproduction and growth, tissue development, etc. Estrogen receptor alpha is encoded by the ESR1 gene, which is located on chromosome 6q25 and has eight exons and seven introns. Today, about 9,000 polymorphisms of the ESR1 gene have been described, some of which are associated with gene activity changes. Such functional polymorphisms include the PvuII polymorphism (rs2234693), which occurs due to the substitution of thymine (T) for cytosine (C) in the first intron of the gene. Objective. The purpose of this study was to assess the frequency of allelic variants of the estrogen receptor alpha gene for the PvuII polymorphism in patients with endometrial hyperplastic process living in the Sumy Oblast of Ukraine and to study its relationship with the histological variant of endometrial hyperplastic process, anthropometric parameters, age categories, medical history, and concomitant diseases. Materials and Methods. Genomic DNA was isolated from blood samples of 95 women with endometrial hyperplastic processes and 80 healthy women. The rs2234693 polymorphism was studied using a polymerase chain reaction with subsequent restriction fragment length polymorphism analysis (PCR-RFLP). The data were processed and statistically analyzed with Microsoft Excel and SPSS Statistics 29.0 for Windows software package. Descriptive statistics, Student's test, ANOVA method, and Pearson's chi-squared test were used in this study. Results with P < 0.05 were considered statistically significant. Results. The distribution of genotype variants for the PvuII polymorphism of the ESR1 gene in women with endometrial hyperplastic process was: homozygotes for the major allele (T/T) – 31.6%, heterozygotes (T/C) – 49.5%, homozygotes for the minor allele (C/C) – 18.9%; in the control group, these values were 30%, 52.5%, and 17.5%, respectively. There was no difference in the distribution of genotypes in patients with endometrial hyperplastic processes and healthy women (χ2 = 0.163, P = 0.922). No associations were found between the PvuII polymorphism and the histological variant of endometrial hyperplastic processes (χ2 = 4.14, P = 0.387), anthropometric parameters (P > 0.05), age (χ2 = 2.98, P = 0.560), medical history (P > 0.05), or concomitant genital and extragenital conditions (P > 0.05). Conclusions. There was no difference in the distribution of T/T, T/C, and C/C genotypes for the PvuII polymorphism in the estrogen receptor alpha gene between patients with endometrial hyperplastic process and the control group. There was no correlation between the genotype variant for the studied polymorphism and the histological variant of the endometrial hyperplastic process, anthropometric parameters, age, medical history, concomitant genital and extragenital conditions in patients of the Sumy Oblast, Ukraine.

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Oestrogen receptor α gene polymorphisms, insomnia, and cognitive functions in perimenopausal and postmenopausal women in non-manual employment

Cited by 3 publications

References 55 publications

Potential genetic and epigenetic mechanisms in insomnia: A systematic review

Potential genetic and epigenetic mechanisms in insomnia: A systematic review

Menopause and women’s cardiovascular health: is it really an obvious relationship?

Pvuii (Rs2234693) Polymorphism of the Estrogen Receptor Alpha Gene in Women From Sumy Oblast, Ukraine, With Endometrial Hyperplastic Process

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