Oestrogen receptor alpha PvuII polymorphism and uterine fibroid incidence in Caucasian women.
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ABSTRACT:
SUBMITTER: Ciebiera M
PROVIDER: S-EPMC6372853 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
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Project description:Introduction:Uterine fibroids (UFs) are benign tumors which are derived from the smooth muscle cells of the uterus. Recent studies have demonstrated that the development of UFs can be particularly related to vitamin D and its receptor. Vitamin D comprises a group of fat-soluble steroid compounds which exert powerful, pleiotropic effects all over the human body. These actions are mediated by a specific type of receptor - vitamin D receptor (VDR). Recent findings have focused on the possible role of VDR genetic variations in the development of several types of diseases, e.g. autoimmune system diseases, various cancers and infections. Material and methods:The aim of the study was to evaluate the association between rs731236, rs1544410, and rs2228570 polymorphisms in the VDR (vitamin D receptor) gene and the incidence of UFs in Caucasian women. A total of 197 patients (114 fibroid-positive and 83 controls) were included in this retrospective cohort study. VDR gene polymorphisms rs731236 (TaqI), rs1544410 (BsmI) and rs2228570 (FokI) were determined using TaqMan and Simple Probes. Results:No statistically significant differences in the occurrence of selected VDR polymorphisms were observed between UF-positive women and healthy controls. Conclusions:We found no association between rs731236, rs1544410, and rs2228570 VDR polymorphisms and UF incidence in Caucasian women. Larger sample size and multi-ethnic studies are necessary to investigate the matter further.
| S-EPMC8641505 | biostudies-literature
Project description:BackgroundUterine fibroids often cause intolerable symptoms leading to invasive treatments, most commonly hysterectomy. Reproductive tract infections are hypothesized to influence uterine fibroid development, but few studies exist, especially for the highly prevalent condition bacterial vaginosis (BV). Both fibroids and BV have documented racial-ethnic disparities, with higher burden in Blacks.MethodsWith prospective data from a community-based study (four standardized ultrasound examinations over 5 years) in young Black women, we examined baseline BV associations with fibroid incidence and growth. We computed adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs) for incidence comparing BV and no BV (Nugent score ≥7 vs. <7) using Cox proportional hazards models among 1027 women fibroid-free at baseline. Fibroid growth associations were based on linear mixed models estimating volume change between ultrasounds indexed to 18 months. We then expressed BV association as estimated percent difference in growth per 18 months, comparing exposed and unexposed.ResultsThere were n = 247 incident fibroids and 1181 growth measures; average fibroid growth per 18 months was a 78% (95% CI: 69 to 87) increase in volume. BV prevalence was 51% and not associated with fibroid incidence (aHR: 1.0, 95% CI: 0.80 to 1.4) or growth (estimated % difference in growth, -3% (95% CI: -12 to 6).ConclusionsIn this first study (to our knowledge) of ultrasound-monitored fibroid development and Nugent-assessed BV, we found no evidence to support the hypothesis that BV increased risk of fibroid incidence or growth or BV's role in the high burden of fibroids in Black women.
| S-EPMC10029099 | biostudies-literature
Project description:The association between the estrogen receptor α gene (ESR1) PvuII polymorphism (c.454-397T>C) and coronary artery disease (CAD) is controversial. Thus, we conducted a meta-analysis to evaluate the relationship. Data were collected from 21 studies encompassing 9926 CAD patients and 16710 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the relationship between PvuII polymorphism and CAD. The polymorphism in control populations in all studies followed Hardy-Weinberg equilibrium. We found a significant association between ESR1 PvuII polymorphism and CAD risk in all subjects. When the data were stratified by region, a significant association between ESR1 PvuII polymorphism and CAD risk was observed in Asian populations but not in Western populations. The current study suggests that ESR1 PvuII polymorphism has an important role in CAD susceptibility.
| S-EPMC3955911 | biostudies-literature
Project description:We conducted a follow-up association study across extended candidate chromosomal regions for uterine leiomyoma (UL), or fibroids, to search for loci influencing the size of UL in 916 premenopausal North American women participants to the NIEHS uterine fibroid study. Proportional odds models with adjustments for confounders were fitted to evaluate the association of a final set of 2,484 single nucleotide polymorphisms (SNPs) with the size of uterine fibroids measured by transabdominal and transvaginal ultrasounds. SNP association with UL size was tested in a case-only design comparing three categories of tumor size (small, medium and large tumors) and in a design that included UL-free controls as the lowest category of a four-level ordinal outcome to account for misclassifications due to small, undetected tumors. In the case-only design, rs2285789 in SORCS2 (sortilin-related VPS10 domain containing receptor 2) was the sole variant that remained significant after correction for multiple testing (Bonferroni-adjusted P=0.037). Several other SNPs, namely those located in MYT1L, TMCC1 and BRCA1, reached promising associations. In the design that included the controls, several genes of potential relevance to UL pathogenesis were associated (Bonferroni-unadjusted P < 0.01) with tumor size, particularly LIFR-AS1 (leukemia inhibitory factor receptor alpha-antisense RNA 1), which showed the strongest association (Bonferroni-unadjusted P=0.0006) among the genes with regulated expression in UL. In conclusion, SORCS2, a known GWAS candidate for circulating IGF-I and IGFBP-3, may act through IGF-I signaling to affect the size of fibroids. Through down-regulation of LIFR, LIFR-AS1 may mediate the inhibitory action of LIF (leukemia inhibitory factor), a cytokine involved in embryonic uterine development. Replication analyses are needed to substantiate our reported associations of SORCS2 and LIFR-AS1 with the size of fibroids.
| S-EPMC4572088 | biostudies-literature
Project description:ObjectiveFibroid treatments that have few side-effects and can preserve fertility are a clinical priority. We studied the association between serum vitamin D and uterine fibroid growth, incidence, and loss.DesignA prospective community cohort study (enrollment 2010-2012) with 4 study visits over 5 years to conduct standardized ultrasounds, measure 25-hydroxyvitamin D (25(OH)D), and update covariates.SettingDetroit, Michigan area.PatientsSelf-identified African American or Black women aged 23-35 at enrollment without previous clinical diagnosis of fibroids.Intervention(s)Serum 25(OH)D measured using immunoassay or liquid chromatography-tandem mass spectrometry.Main outcome measure(s)The primary outcomes were fibroid growth, as measured by change in log volume per 18 months, and fibroid incidence (first detection of fibroid in previously fibroid-free uterus). Adjusted growth estimates from linear mixed models were converted to estimated difference in volume for high vs. low 25(OH)D. Incidence differences were estimated as hazard ratios from age-specific Cox regression. A secondary outcome fibroid loss (reduction in fibroid number between visits), was modeled using Poisson regression. Covariates (reproductive and hormonal variables, demographics, body mass index, current smoking) and 25(OH)D were modeled as time-varying factors.Result(s)At enrollment among 1,610 participants with ≥1 follow-up ultrasound, mean age was 29.2 years, 73% had deficient vitamin D (<20ng/mL), and only 7% had sufficient vitamin D (≥30ng/mL). Serum 25(OH)D ≥20ng/mL compared with <20ng/mL was associated with an estimated 9.7% reduction in fibroid growth (95% confidence interval [CI]: -17.3%, -1.3%), similar to the minimally adjusted estimate -8.4% (95% CI: -16.4, 0.3). Serum 25(OH)D ≥30ng/mL compared with <30ng/mL was associated with an imprecise 22% reduction in incidence (adjusted hazard ratio=0.78; 95% CI: 0.47, 1.30), similar to the unadjusted estimate of 0.84 (95% CI: 0.51, 1.39). The >30ng/mL group also had a 32% increase in fibroid loss (adjusted risk ratio=1.32; 95% CI: 0.95, 1.83).Conclusion(s)Our data support the hypothesis that high concentrations of vitamin D decrease fibroid development but are limited by the few participants with serum 25(OH)D ≥30ng/mL. Interventional trials that raise and maintain 25(OH)D concentrations >30ng/mL and then prospectively monitor fibroid development are needed to further assess supplemental vitamin D efficacy and determine optimal treatment protocols.
| S-EPMC9771933 | biostudies-literature
Project description:ImportanceUterine fibroids are an understudied condition, with earlier onset in Black than White women. Prior studies of the importance of family history on fibroid development are limited by reliance on hospital-based participant selection, poorly defined measures of family history, and nonsystematic fibroid assessment.ObjectiveTo examine whether family history is a risk factor for fibroid development using prospective ultrasonography data to identify incident fibroids and measure fibroid growth and standardized methods to ascertain family history.Design, setting, and participantsThis prospective community cohort of Black and African American women from the Detroit, Michigan, area was conducted from January 1, 2010, to December 31, 2018, using 4 standardized ultrasonographic examinations during 5 years to detect fibroids 0.5 cm or larger in diameter and measure fibroid growth. Data analysis was performed between May 2022 and January 2024.ExposuresMaternal fibroid history data were gathered directly from participants' mothers when possible (1425/1628 [88%]), and 2 exposure variables were created: maternal history of fibroids (diagnosed vs not diagnosed) and age at maternal fibroid diagnosis (20-29, 30-39, or ≥40 years vs not diagnosed).Main outcomes and measuresFibroid incidence was assessed using multivariable Cox proportional hazards regression models; fibroid growth was calculated as change in log-volume per 18 months for fibroids matched at successive ultrasonograms.ResultsA total of 1610 self-identified Black and/or African American women aged 23 to 35 years (mean [SD] age, 29.2 [3.4] years) with no prior clinical diagnosis of fibroids at enrollment were available for analysis. Of 1187 fibroid-free participants at enrollment, 442 (37%) had mothers who were diagnosed with fibroids. Compared with participants without a maternal history of fibroids, those reporting maternal history had an adjusted hazard ratio (AHR) of 1.21 (95% CI, 0.96-1.52). Risk was strongest in those whose mothers were diagnosed at a younger age (20-29 years: AHR, 1.56; 95% CI, 1.11-2.21; 30-39 years: AHR, 1.03; 95% CI, 0.71-1.49; ≥40 years: AHR, 1.11; 95% CI, 0.81-1.52; P = .053 for trend). Fibroid growth rates were higher when mothers were diagnosed with fibroids vs not diagnosed (8.0% increased growth; 95% CI, -1.2% to 18.0%).Conclusions and relevanceIn this prospective cohort study, results supported maternal history of fibroids as a risk factor for incident fibroids, especially when mothers were diagnosed at a younger age. Maternal history was also associated with increased fibroid growth. Asking patients about their family history of fibroids could encourage patient self-advocacy and inform care.
| S-EPMC10993075 | biostudies-literature
Project description:ObjectiveTo evaluate the relationship between genetic ancestry and uterine fibroid characteristics.DesignCross-sectional study.SettingNot applicable.Patient(s)A total of 609 African American participants with image- or surgery-confirmed fibroids in a biorepository at Vanderbilt University electronic health record biorepository and the Coronary Artery Risk Development in Young Adults studies were included.Intervention(s)None.Main outcome measure(s)Outcome measures include fibroid number (single vs. multiple), volume of largest fibroid, and largest fibroid dimension of all fibroid measurements.Result(s)Global ancestry meta-analyses revealed a significant inverse association between percentage of European ancestry and risk of multiple fibroids (odds ratio: 0.78; 95% confidence interval 0.66, 0.93; P=6.05 × 10-3). Local ancestry meta-analyses revealed five suggestive (P<4.80 × 10-3) admixture mapping peaks in 2q14.3-2q21.1, 3p14.2-3p14.1, 7q32.2-7q33, 10q21.1, 14q24.2-14q24.3, for number of fibroids and one suggestive admixture mapping peak (P<1.97 × 10-3) in 10q24.1-10q24.32 for volume of largest fibroid. Single variant association meta-analyses of the strongest associated region from admixture mapping of fibroid number (10q21.1) revealed a strong association at single nucleotide polymorphism variant rs12219990 (odds ratio: 0.41; 95% confidence interval 0.28, 0.60; P=3.82 × 10-6) that was significant after correction for multiple testing.Conclusion(s)Increasing African ancestry is associated with multiple fibroids but not with fibroid size. Local ancestry analyses identified several novel genomic regions not previously associated with fibroid number and increasing volume. Future studies are needed to explore the genetic impact that ancestry plays into the development of fibroid characteristics.
| S-EPMC5728674 | biostudies-literature
Project description:ObjectiveStudies, mainly from high-income countries, suggest that there are ethnic and racial variations in prevalence of uterine fibroids (UF). However, there have been few studies of the epidemiology of UF in sub-Saharan Africa (SSA). We reviewed published articles on the epidemiology of UF in SSA.DesignThis was a scoping review of literature.SettingsWe searched three databases (PubMed, African Wide Information (EBSCO) and African Journals OnLine (AJOL)). The search for eligible articles was conducted between December 2019 and January 2021.Primary and secondary outcome measuresTo describe the reported prevalence/incidence of, and risk factors for UF in SSA.ResultsOf the 1052 articles retrieved, 9 met the inclusion criteria for review. The articles were from Nigeria (4/9), Ghana (2/9), Cameroon (1/9), Kenya (1/9) and South Africa (1/9). Two studies from pathology departments and three studies from radiology departments reported prevalence of UF. We did not find any study on the incidence or genomics of UF in SSA. Of the three studies that reported on the risk factors of UF, only one case-control study that was conducted using retrospective data of attendees at a gynaecological clinic conducted multivariable analysis.ConclusionThere is lack of robust epidemiological studies of the prevalence, incidence and risk factors of UF in SSA. There is urgent need to study epidemiological and genomics risk factors of UF in SSA because UF is the most common gynaecological neoplasm in this population where it is associated with significant morbidity and occasional, usually perioperative, mortality.
| S-EPMC9353014 | biostudies-literature
Project description:ObjectiveTo demonstrate the applicability and adaptability of uterine fibroid symptoms and quality of life (UFS-QoL) in assessing the efficacy of treatment in Chinese populations.MethodsThis is a secondary analysis of a prospective cohort study involving 20 Chinese hospitals and 2,411 Chinese women with fibroids. Patients completed UFS-QoL and short form-36 (SF-36) at pre-surgery, 6-month and 12-month post-treatments. Internal consistency of the quality of life assessed by the UFS-QoL questionnaire using Cronbach's α coefficient (α). Principal axis factor analysis with orthogonal rotation was established to investigate relationships between items and subscales. Concurrent validity refers to the Spearman's correlation estimate of the correlation between UFS-QoL and SF-36. Using effect size and standardized response mean, the ability to detect change was evaluated by comparing pre- and post-6-month and post-12-month treatment scores.ResultsExploratory factor analysis yielded six subscales (concern, activities, energy/mood, control, self-consciousness, and sexual function) with eigenvalues > 1 in UFS-QoL. A 63.61% total variance was explained by the test items. Ceiling effects of self-consciousness and sexual functioning subscales from UFS-QoL were > 15%. UFS-QoL showed a positive and moderate correlation with SF-36 to establish good concurrent validity. And showed good consistency reliability (Cronbach α > 0.7 in all subscales), ability to detect change after treatment. This excluded self-consciousness (α = 0.56), which demonstrated the lowest effect size (0.38) and standardized response means (0.38) 6- and 12-months post-treatment.ConclusionsSymptom severity, activity, and mood subscales of the Chinese UFS-QoL were valid and reliable. However, the self-consciousness domain needs further investigation on cultural adaptation, such as cognitive debriefing for how Chinese interpret these questions.
| S-EPMC9463796 | biostudies-literature
Project description:BackgroundUterine fibroids are common. Symptoms are debilitating for many, leading to high medical and societal costs. Indirect data suggest that compared with white women, African Americans develop fibroids at least 10 years earlier on average, and their higher health burden has been well documented.ObjectiveThe objective of the study was to directly measure fibroid incidence and growth in a large, community-based cohort of young African-American women.Study designThis observational, community-based, prospective study enrolled 1693 African-American women, aged 23-35 years with no prior diagnosis of fibroids. Standardized transvaginal ultrasound examinations at enrollment and after approximately 18 months were conducted to identify and measure fibroids ≥0.5 cm in diameter. Fibroid growth (change in natural log volume per 18 months) was analyzed with mixed-model regression (n = 344 fibroids from 251 women whose baseline ultrasound revealed already existing fibroids).ResultsAmong the 1123 fibroid-free women with follow-up data (88% were followed up), incidence was 9.4% (95% confidence interval, 7.7-11.2) and increased with age (Ptrend < .0001), from 6% (confidence interval, 3-9) for 23-25 year olds to 13% (confidence interval, 9-17) for 32-35 year olds. The chance of any new fibroid development was greater than twice as high for women with existing fibroids compared with women who were fibroid free at baseline (age-adjusted relative risk = 2.3 (confidence interval, 1.7-3.0). The uterine position of most incident fibroids (60%) was intramural corpus. Average fibroid growth was 89% per 18 months (confidence interval, 74-104%) but varied by baseline fibroid size (P < .0001). Fibroids ≥2 cm in diameter had average growth rates well under 100%. In contrast, small fibroids (<1 cm diameter) had an average growth rate of nearly 200% (188%, confidence interval, 145-238%). However, these small fibroids also had a high estimated rate of disappearance (23%).ConclusionThis is the first study to directly measure age-specific fibroid incidence with a standardized ultrasound protocol and to measure fibroid growth in a large community-based sample. Findings indicate that very small fibroids are very dynamic in their growth, with rapid growth, but a high chance of loss. Larger fibroids grow more slowly. For example, a 2-cm fibroid is likely to take 4-5 years to double its diameter. Detailed data on fibroid incidence confirm an early onset in African-American women.
| S-EPMC8039858 | biostudies-literature