Dataset Information

Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.

ABSTRACT: Age at menarche and menstrual cycle characteristics are indicators of endocrine function and may be risk factors for diseases such as reproductive cancers. The progesterone receptor gene (PGR) has been identified as a candidate gene for age at menarche and menstrual function.Women office workers ages 19-41 self-reported age at menarche and participated in a prospective study of menstrual function and fertility. First-morning urine was used as the DNA source. 444 women were genotyped for a functional variant in PGR, rs1042838 (Val660Leu), and 264 women were also genotyped for 29 other SNPs across the extended gene region.Genetic variation across PGR was associated with age at menarche using a global score statistic (p = 0.03 among non-Hispanic whites). Women carrying two copies of the Val660Leu variant experienced menarche 1 year later than women carrying one or no copies of the variant (13.6 ± 0.5 vs. 12.6 ± 0.1; p = 0.03). The Val660Leu variant was also associated with decreased odds of short menstrual cycles (17-24 days) (OR, 95% CI: 0.54 [0.36, 0.80]; p = 0.002).Genetic variation in PGR was associated with age at menarche and menstrual cycle length in this population. Further investigation of these associations in a replication dataset is warranted.

SUBMITTER: Taylor KC

PROVIDER: S-EPMC3021500 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.

Taylor K C KC Small C M CM Epstein M P MP Sherman S L SL Tang W W Wilson M M MM Bouzyk M M Marcus M M

Hormone research in paediatrics 20100902 6

<h4>Background</h4>Age at menarche and menstrual cycle characteristics are indicators of endocrine function and may be risk factors for diseases such as reproductive cancers. The progesterone receptor gene (PGR) has been identified as a candidate gene for age at menarche and menstrual function.<h4>Methods</h4>Women office workers ages 19-41 self-reported age at menarche and participated in a prospective study of menstrual function and fertility. First-morning urine was used as the DNA source. 44 ...[more]

PMID: 20814185

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Project description:BackgroundLocal inflammation plays an important role in normal folliculogenesis and ovulation, and conditions of chronic systemic inflammation, such as obesity and polycystic ovarian syndrome, can disrupt normal follicular dynamics.ObjectiveThis study aimed to determine the association between systemic inflammation, as measured by C-reactive protein levels, and menstrual cycle length.Study designThis study was a secondary analysis using data from Time to Conceive, a prospective time-to-pregnancy cohort study. The association between cycle length and C-reactive protein was analyzed using multivariable linear mixed and marginal models adjusted for age, race, education, body mass index, time since oral contraceptive use, alcohol, smoking, caffeine consumption, and exercise. Time to Conceive enrolled women aged 30 to 44 years with no history of infertility who were attempting to conceive for <3 months. Serum C-reactive protein levels were measured on cycle day 2, 3, or 4. Participants recorded daily menstrual cycle data for ≤4 months.ResultsMain outcome measures included menstrual cycle length and follicular and luteal phase lengths. Multivariable analysis included 1409 cycles from 414 women. There was no linear association between C-reactive protein levels and menstrual cycle length. However, compared with <1 mg/L, a C-reactive protein level >10 mg/L was associated with >3 times the odds (adjusted odds ratio, 3.7; 95% confidence interval, 1.67-8.11) of long cycles (defined as ≥35 days). When evaluating follicular phase length, a C-reactive protein level of >10 mg/L was associated both with follicular phases that were 1.7 (95% confidence interval, 0.23-3.09) days longer and with >2 times the odds of a long follicular phase (adjusted odds ratio, 2.2; 95% confidence interval, 1.05-4.74).ConclusionThere is a potential pathophysiological association between systemic inflammation and menstrual cycle changes. Further studies are needed to determine if systemic inflammation alters the menstrual cycle or if long menstrual cycles are a marker for elevated systemic inflammation.

Project description:BackgroundThe age at menarche (AAM) is commonly in use in patients with IS as one of the maturity indicator suggesting deceleration of the growth velocity. The AAM was suggested to be related to predisposition and curve progression potential of IS. The late age at menarche was reported to be associated with higher prevalence of adolescent idiopathic scoliosis. The age at menarche is determined by both genetic and environmental factors as well as their interactions. Estrogen receptors 1 and 2 polymorphism were reported to be associated with AAM: in ESR1 XbaI and PvuII site polymorphism and in ESR2 AluI site polymorphism.The purpose of the study was to investigate associations of the ESR1 and ESR2 polymorphisms with AAM in IS patients and to evaluate association of AAM with IS severity.Methods208 females with IS Caucasian females from Central Europe underwent clinical, radiological and genetic examinations. Four SNPs were selected XbaI (A/Grs9340799) and PvuII (C/T rs2234693) in ESR1and AluI (A/G rs4986938) and RasI (A/G rs1256049) in ESR2. Samples were analyzed with polymerase chain reaction followed by restriction fragments length polymorphism analysis (PCR-RFLP). The age of a menarche was established during personal interview with the patients and in case of children with their parents. The Cobb angle was measured.ResultsAll genotypes followed HWE. Mean AAM for patients was 154.8 ± 14.7 months (12.9 ± 1.2 years). The earliest AAM was 121 and latest 192 months. There was no statistically significant difference between AAM mean values in each genotype, for the XbaI, PvuII, AluI and RsaI site polymorphisms the p values were p=0.7141, p=0.9774, p=0.7973 and p=0.2282, respectively. Patients divided according to Cobb into mild (<30°), moderate (30°-49°) or severe (≥ 50°) IS revealed tendency to delay AAM: 151.9 ± 14.7; 155.2 ± 14.8 and 157.9 ± 14.0 months, respectively. There was statistical significant difference between patients with mild <30° and severe ≥ 50° IS, p=0.0267.ConclusionsIn IS patients estrogen receptors polymorphisms did not show association with the AAM. Patients with severe IS form revealed delayed AAM than patients with mild IS form.

Project description:ImportancePrevious studies have shown an association between actual age at menarche and risk of all-cause mortality; however, the results are inconsistent, and no study has analyzed the joint associations between genetic susceptibility and actual age at menarche with the risk of mortality in prospective cohorts.ObjectivesTo investigate joint associations of actual age and genetically determined age at menarche with risk of all-cause mortality.Design, setting, and participantsThis prospective cohort study was conducted using data from the UK Biobank population across the United Kingdom from March 13, 2006, to October 1, 2010. A total of 264 546 women aged between 39 and 71 years with actual menarcheal age were included in this study; 246 676 of these women had genetic data available. Actual age at menarche was obtained from the touchscreen questionnaire at recruitment from 2006 to 2010. Genetically determined age at menarche was assessed by a genetic risk score. Statistical analysis was performed from August 22 to December 12, 2019.ExposureAge at menarche.Main outcomes and measuresA multivariable Cox proportional hazards regression model was used to assess associations of actual or genetically determined age at menarche with risk of all-cause mortality.ResultsThe mean (SD) age of the study population at baseline was 56.4 (8.0) years, and the mean (SD) age at menarche included in the analyses was 13.0 (1.6) years. During a median of 9.0 years (range, 8.3-9.7 years) of follow-up, 7761 deaths were documented among the women with actual age at menarche, and 7054 deaths were documented among the women with genetically determined age at menarche. Both the actual age at menarche and the genetically determined age at menarche showed a U-shaped association with the risk of all-cause mortality (lowest actual age [<12 years] vs reference age [15 years]: hazard ratio [HR], 1.16 [95% CI, 1.07-1.26]; highest actual age [≥16 years] vs reference age [15 years]: HR, 1.17 [95% CI, 1.05-1.31]; P < .001 for quadratic trend; genetic risk score [GRS] of 1 vs reference score [GRS of 4]: HR, 1.10 [95% CI, 1.01-1.19; GRS of 6 vs reference score [GRS of 4]: HR, 1.09 [95% CI, 1.00-1.18]; P = .03 for quadratic trend). Significant interactions were also found between actual age at menarche and genetically determined age at menarche with all-cause mortality (HR of mortality associated with age of menarche <12 year was 1.24 [95% CI, 1.10-1.40] in the GRS of 1 group and 1.44 [95% CI, 1.21-1.72] in the GRS of 6 group; P = .001 for interaction). Women with mismatch of actual age and genetically determined age at menarche had the highest mortality risks; participants with the lowest genetic risk score and the highest age at menarche had an HR of 2.12 (95% CI, 1.58-2.83), and participants with the highest GRS and the lowest age at menarche had an HR of 1.44 (95% CI, 1.21-1.72).Conclusions and relevanceThe results suggest that both actual age and genetically determined age at menarche exhibit U-shaped associations with all-cause mortality. Women with mismatch of actual age and genetically determined age at menarche may have the highest risk of all-cause mortality.

Dataset Information

Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.

Publications

Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.

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