scholarly journals Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Wanqin Feng ◽  
Yan Zhang ◽  
Yuan Pan ◽  
Yi Zhang ◽  
Minjuan Liu ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Polycystic Ovary Syndrome ◽  
Mediation Analysis ◽  
Homocysteine Level ◽  
Polycystic Ovary ◽  
Linear Regression Analysis ◽  
Dependent Manner ◽  
Missense Mutations ◽  
Ovary Syndrome ◽  
Southern Chinese

Abstract Background The etiology between homocysteine and polycystic ovary syndrome (PCOS) is unclear. In humans, the level of homocysteine is mainly affected by two enzymes: methylene tetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR). While the activity of these two enzymes is mainly affected by three missense mutations, namely C677T (MTHFR), A1298C (MTHFR), and A66G (MTRR). This study aims to examine the association between the three missense mutations and PCOS and investigate whether the three missense mutations exerted their effect on PCOS by affecting the homocysteine level. Methods A case-control study was designed, comprising 150 people with PCOS and 300 controls. Logistic regression analysis was used to assess the association between the three missense mutations and PCOS. Linear regression analysis was used to assess the association between the three missense mutations and the homocysteine level. Mediation analysis was used to investigate whether the three missense mutations exerted their effect on PCOS by affecting the homocysteine level. Results Following adjustments and multiple rounds of testing, MTHFR A1298C was found to be significantly associated with PCOS in a dose-dependent manner (compared to AA, OR = 2.142 for AC & OR = 3.755 for CC; P < 0.001). MTRR A66G was nominally associated with PCOS. Mutations in MTHFR A1298C and MTRR A66G were significantly associated with the homocysteine level. Mediation analysis suggested the effect of MTHFR A1298C on PCOS was mediated by homocysteine. Conclusions MTHFR A1298C and MTRR A66G were associated with PCOS, and MTHFR A1298C might affect the risk of PCOS by influencing the homocysteine level.

scholarly journals Impact of vitamin D supplementation on cardio-metabolic status and androgen profile in women with polycystic ovary syndrome: placebo-controlled clinical trial

2019 ◽  
Vol 24 (1) ◽  
Author(s):  
Nearmeen M. Rashad ◽  
Azza H. Abd El-Fatah ◽  
Mohamed El-Bakry Lashin ◽  
Hala G. Abomandour ◽  
Reem M. Allam
Keyword(s):  
Vitamin D ◽  
Regression Analysis ◽  
Polycystic Ovary Syndrome ◽  
Clinical Features ◽  
Polycystic Ovary ◽  
Linear Regression Analysis ◽  
Vitamin D Supplementation ◽  
Metabolic Status ◽  
Ovary Syndrome ◽  
The Impact

Abstract Background Polycystic ovary syndrome (PCOS) is a heterogeneous disorder of reproductive, endocrine, and metabolic functions. Vitamin D has an influence on metabolic and reproductive functions. This study was designed to explore the levels of free 25 hydroxycholecalciferol [25(OH)-D] in PCOS patients. We also aimed to clarify the impact of vitamin D supplementation on cardio-metabolic status, androgen profile, and clinical features of PCOS. Results Our results revealed significant lower levels of serum 25(OH)-D in PCOS women compared with healthy controls. Even more importantly, our results reported that 25(OH)-D levels were negatively correlated with cardio-metabolic risk factors, androgenic profile, and clinical features of PCOS. Stepwise multiple linear regression analysis revealed that carotid intima-media thickness (CIMT), fasting serum insulin (FSI), and fasting plasma glucose (FPG) were the main predictors of 25(OH)-D levels among other clinical and laboratory biomarkers. Considering the impact of VD supplementation in the PCOS group, there were significant improvements of cardio-metabolic risks, PCOS phenotype, and androgenic profile. Even more important, these results are associated with increasing 25(OH)-D serum levels after VD supplementations. Logistic regression analysis observed that androstenedione, FSI, and hirsutism score were independent predictors of response to VD supplementation. Conclusion The supplementation of VD for 12 weeks improved the cardio-metabolic and androgenic profiles of PCOS. Furthermore, VD supplementation could be a promising treatment of PCOS and its associated morbidity in PCOS-deficient women. Trial registration NCT04117750

scholarly journals The clinical significance and primary determinants of hirsutism in patients with polycystic ovary syndrome

2013 ◽  
Vol 168 (6) ◽  
pp. 871-877 ◽  
Author(s):  
Dimitrios Panidis ◽  
Konstantinos Tziomalos ◽  
Efstathios Papadakis ◽  
Panagiotis Chatzis ◽  
Eleni A Kandaraki ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Polycystic Ovary Syndrome ◽  
Abdominal Obesity ◽  
Polycystic Ovary ◽  
Linear Regression Analysis ◽  
Serum Testosterone ◽  
Normal Weight ◽  
Binary Logistic Regression Analysis ◽  
Obese Women ◽  
Ovary Syndrome

ObjectiveHirsutism is frequently present in patients with polycystic ovary syndrome (PCOS) and is a major sign of hyperandrogenism. However, other disorders frequently present in PCOS, particularly abdominal obesity and insulin resistance (IR), have also been implicated in the development of hirsutism in this population but relevant data are limited. We aimed to define the determinants of the presence of hirsutism in PCOS.DesignObservational study.MethodsWe studied 1297 patients with PCOS (age 24.3±5.8 years, BMI 26.8±6.9 kg/m2). Hirsutism was defined as a modified Ferriman–Gallwey score ≥8.ResultsWomen with hirsutism were younger, had greater BMI, and had higher levels of circulating androgens than women without hirsutism; markers of IR did not differ between the two groups after adjustment for age and BMI. The prevalence of hirsutism progressively declined with age, was lower in normal-weight women than in overweight and obese women, and was comparably prevalent in the hyperandrogenemic phenotypes of PCOS. In binary logistic regression analysis, independent predictors of the presence of hirsutism were younger age, larger waist circumference (W), and higher serum testosterone levels. In stepwise linear regression analysis, the Ferriman–Gallwey score independently correlated with age, W, free androgen index, and serum Δ4-androstenedione and DHEAS levels.ConclusionsBesides hyperandrogenemia, abdominal obesity, and young age are independently associated with the presence of hirsutism. In contrast, the relationship between IR and hirsutism appears to be mediated by the more severe obesity of insulin-resistant patients with PCOS.

scholarly journals Relationship between parasympathetic reactivity and oxidative stress in Polycystic ovary syndrome

2020 ◽  
Vol 14 (2) ◽  
pp. 48-55
Author(s):  
Ayesha Akhter ◽  
Sultana Ferdousi ◽  
Shamima Sultana ◽  
Musfika Mostafa
Keyword(s):  
Oxidative Stress ◽  
Heart Rate ◽  
Regression Analysis ◽  
Polycystic Ovary Syndrome ◽  
Multiple Regression Analysis ◽  
Polycystic Ovary ◽  
Ovary Syndrome ◽  
Healthy Control ◽  
And Oxidative Stress ◽  
Plasma Malondialdehyde

Background: Polycystic ovary syndrome (PCOS) is a very common reproductive hormone disorder. Altered cardiovagal autonomic modulation and oxidative stress may predispose PCOS patients to increased cardiovascular morbidity. Objective: To assess the relationship between parasympathetic reactivity and oxidative stress in patients with PCOS. Methods: This crosssectional study was conducted in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbagh, Dhaka from September 2018 to August 2019 on 35 newly diagnosed obese (BMI ≥25kg/m2) PCOS patients aged 20-35 years. Age and BMI matched 35 apparently healthy women were also enrolled as control. Three noninvasive conventional autonomic function tests, such as heart rate response to deep breathing, standing and the Valsalva maneuver, were used for evaluation of parasympathetic reactivity. For assessment of oxidative stress, plasma malondialdehyde level (oxidant) and plasma catalase level(antioxidant) were measured in all subjects by spectrophotometry. Data were expressed as mean± SD. For statistical analysis Independent sample “t” test, Pearson’s correlation test and multiple regression analysis were done as applicable. Results: In this study PCOS patients had significantly higher (p<0.01)resting heart rate, systolic and diastolic blood pressure than that of healthy control. But Expiration: Inspiration ratio, Expiration:Inspiration difference and 30:15 ratio during standing were significantly lower (p<0.001, p<0.01 and p<0.05 respectively) in PCOS compared to control. In addition, plasma catalase level was significantly lower (p<0.01)and plasma malondialdehyde level significantly higher (p<0.001) in PCOS in comparison to healthy control. Multiple regression analysis showed plasma catalase as a significant positive predictor (p<0.05) of the Valsalva ratio in PCOS. Also, Valsalva ratio showed significant negative association (p<0.05) with plasma malondialdehyde (p<0.01)in PCOS. Conclusion: Based on these results it is concluded that impaired parasympathetic reactivity showed inverse relationship with oxidative stress in PCOS. J Bangladesh Soc Physiol. 2019, December; 14(2): 48-55

scholarly journals SUN-020 Waist Circumference Is Associated with Insulin Resistance in Young Korean Women with Polycystic Ovary Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Do Kyeong Song ◽  
Hyejin Lee ◽  
Young Sun Hong ◽  
Yeon-Ah Sung
Keyword(s):  
Insulin Resistance ◽  
Regression Analysis ◽  
Insulin Sensitivity ◽  
Waist Circumference ◽  
Polycystic Ovary Syndrome ◽  
Young Women ◽  
Polycystic Ovary ◽  
Korean Women ◽  
Ovary Syndrome ◽  
Negatively Associated

Abstract Polycystic ovary syndrome (PCOS) is a heterogeneous disorder and associated with metabolic disturbances such as insulin resistance (IR) and obesity which are risk factors for cardiovascular diseases. Many studies have shown that waist circumference (WC) representing abdominal obesity is an important risk factor for IR. However, there were few studies whether WC were associated with IR in young women with PCOS. We aimed to evaluate the role of WC in IR among young Korean women with PCOS. We enrolled age- and body mass index-matched women with PCOS (n = 100) and controls (n = 100). WC was measured and the 75-gram oral glucose tolerance test (OGTT) was performed. Insulin sensitivity was assessed by the Stumvoll index which was calculated from an OGTT. Multiple linear regression analysis was performed to evaluate the association between WC and IR. WC, fasting glucose, post-load 2-hour glucose, fasting insulin, and post-load 2-hour insulin did not differ between women with PCOS and controls. Women with PCOS had lower values of the Stumvoll index than the controls. In correlation analysis, WC was negatively correlated with the Stumvoll index in women with PCOS, however not in controls. In multiple regression analysis, WC was negatively associated with the Stumvoll index even after adjustment for age, total cholesterol, and total testosterone in women with PCOS. In young Korean women with PCOS, WC was negatively associated with insulin sensitivity independent of hyperandrogenemia. Simply measuring of WC could be used to screen the high risk group having IR in young women with PCOS.

scholarly journals Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome

2010 ◽  
Vol 21 (3) ◽  
pp. 344-348 ◽  
Author(s):  
Binbin Wang ◽  
Sirui Zhou ◽  
Jing Wang ◽  
Jingjing Liu ◽  
Feng Ni ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Chinese Women ◽  
Polycystic Ovary ◽  
Missense Mutations ◽  
Ovary Syndrome

scholarly journals Elevated ovarian pentraxin 3 in polycystic ovary syndrome

2021 ◽  
Author(s):  
Jiexue Pan ◽  
Chengliang Zhou ◽  
Zhiyang Zhou ◽  
Zuwei Yang ◽  
Tiantian Dai ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Linear Regression Analysis ◽  
Reproductive Hormones ◽  
Enzyme Linked Immunosorbent Assay ◽  
Low Grade ◽  
Pentraxin 3 ◽  
Healthy Weight ◽  
Ovary Syndrome ◽  
Ptx3 Level

Abstract Purpose Pentraxin 3 (PTX3) plays a crucial role in cumulus expansion and fertilization. The ovarian PTX3 level in polycystic ovary syndrome (PCOS) remains uncertain. In the present study, we investigated the follicular PTX3 levels and found the influence of reproductive hormones on ovarian PTX3 concentration. Methods This study was based on 204 healthy-weight women (102 PCOS and 102 normal ovulating subjects) undergoing in vitro fertilization (IVF). Follicular fluid (FF) was collected during oocyte retrieval. The PTX3 levels and other hormone levels in FF samples were analyzed by enzyme-linked immunosorbent assay (ELISA). Results The PTX3 level in the follicle was significantly higher in the healthy-weight PCOS women than controls. Positive correlations were found between ovarian PTX3 level and the existence of PCOS, cycle length, basal LH to FSH ratio and TT in serum, antral follicle count, and ovarian insulin and androgen level, and inverse correlations with the basal serum PRL and ovarian SHBG. In multivariant linear regression analysis, the presence of PCOS diagnosis, participants’ basal LH to FSH ratio, and ovarian androstenedione level were the main predictors of ovarian PTX3 level among the enrolled subjects. Conclusion Elevated ovarian PTX3 level supports the low-grade chronic inflammatory state in the follicles of PCOS. The existence of PCOS, disturbed pituitary gland, and ovarian hyperandrogenism might also be related to this state of low-grade chronic inflammation and could be a subject of further study.

scholarly journals UCA1 and microRNA-18a signaling pathway mediates the irisin-lowering effect of met in the management of polycystic ovary syndrome (PCOS)

2021 ◽  
Author(s):  
Wei Wang ◽  
Tian Hua ◽  
Xiaodong Li ◽  
Xinxian Zhang ◽  
Wei Hao
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Real Time ◽  
Signaling Pathway ◽  
Real Time Pcr ◽  
Polycystic Ovary ◽  
Luciferase Assay ◽  
Dependent Manner ◽  
Ovary Syndrome ◽  
Lowering Effect ◽  
Pcos Group

IntroductionThe present study aimed to clarify the underlying mechanism of metformin (met) in the management of polycystic ovary syndrome (PCOS) and to explore the role of UCA1/ microRNA-18a signaling pathway in the control of PCOS.Material and methodsReal-time PCR was performed to compare the level of irisin, blood glucose, UCA1 and miR-18a among PCOS, PCOS + Met, and control groups using area under curve (AUC) values. In-silicon analysis and luciferase assay were performed to explore the regulatory relationship among UCA1, miR-18a and irisin. Real-time PCR and Western-blot analysis were carried out to detect the effect of met on the expression of UCA1, miR-18a and irisin.ResultsAUC of UCA1 was the highest while AUC of irisin was the lowest. Also, irisin and UCA1 levels in the PCOS group were much higher than those in the PCOS + Met group, while miR-18a level in the PCOS group was much lower than PCOS + Met group. Through the luciferase assay, miR-18a was proved to directly bound to irisin 3’UTR. Additionally, irisin was identified to be a target gene of miR-18a. Finally, the treatment with met at the increasing concentration reduced the level of UCA1 and irisin but increased the level of miR-18a in a dose dependent manner.ConclusionsIn the management of PCOS, the irisin-lowering effect of met is regulated by the UCA1/miR-18a/RhoB signaling pathway.

scholarly journals Two novel missense mutations in exon 9 of TPO gene in Polycystic Ovary Syndrome patients with hypothyroidism

2015 ◽  
Vol 9 (1) ◽  
pp. 30-37
Author(s):  
Mahdi Saber G. Al-Deresawi Al-Deresawi ◽  
Abdul Hussein Moyet AlFaisal AlFaisal
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Missense Mutations ◽  
Ovary Syndrome ◽  
Reading Frame ◽  
Iraqi Women ◽  
Exon 9 ◽  
The Relationship ◽  
Hormonal Assay ◽  
Fertile Women

This study was reflected on the relationship between the polycystic ovary syndrome (PCOS) and the geneticalternations in TPO gene. Fifty infertile Iraqi women with PCOS and 20 healthy women were included in thisstudy, Blood samples were collected from the Infertility center of AL-Yarmok Teaching Hospital in Baghdad,during the period from November, 2010 to May, 2011. The age of infertile and fertile women was ranged from 16 to45 years. The results of hormonal assay were as follows: There is significant (P ≤0.05) decrease in E2 and FSHlevels in PCOS women and fertile women, There is significant (P ≤0.05) increase in LH levels in PCOS women andfertile women. There is no significant differences in Testosterone levels and the ratio of LH/FSH was ≥1.5. Themolecular study was focused on the 18% of PCOS women with hypothyroidism. By sequencing for 27 samples; twonovel different mutations were identified in the reading frame of the TPO gene in transcript variant of exon 9:c.1471delC (deletion C in codon 460) and c.1481delC (deletion C in codon 464). The percentage of mutationsc.1481delC and c.1471delC recorded 55% and 44% of PCOS with hypothyroidism; respectively.

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