scholarly journals Association of Kiss1 and GPR54 Gene Polymorphisms with Polycystic Ovary Syndrome among Sri Lankan Women

2019 ◽  
Vol 2019 ◽  
pp. 1-10 ◽  
Author(s):  
Umayal Branavan ◽  
Kajan Muneeswaran ◽  
W. S. S. Wijesundera ◽  
Anoma Senanayake ◽  
N. Vishvanath Chandrasekharan ◽  
...  

Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder affecting women of reproductive age. Its aetiology, though yet unclear, is presumed to have an oligogenic basis interacting with environmental factors. Kisspeptins are peptide products of Kiss1 gene that control the hypothalamic pituitary (HPG) axis by acting via G protein-coupled receptor known as GPR54. There is paucity of data on the role of Kiss1 and GPR54 gene in PCOS. We aimed to identify the polymorphisms in Kiss1 and GPR54 genes and explore their association with serum kisspeptin levels among Sri Lankan women with well-characterized PCOS. Consecutive women with PCOS manifesting from adolescence (n=55) and adult controls (n=110) were recruited. Serum kisspeptin and testosterone levels were determined by ELISA method. Whole gene sequencing was performed to identify the polymorphisms in Kiss1 and GPR54 genes. Serum kisspeptin and testosterone concentrations were significantly higher in women with PCOS than controls: kisspeptin 4.873nmol/L versus 4.127nmol/L; testosterone 4.713nmol/L versus 3.415 nmol/L, p<0.05. Sequencing the GPR54 gene revealed 5 single nucleotide polymorphisms (SNPs), rs10407968, rs1250729403, rs350131, chr19:918686, and chr19:918735, with two novel SNPs (chr19:918686 and chr19:918735), while sequencing the Kiss1 gene revealed 2 SNPs, rs5780218 and rs4889. All identified SNPs showed no significant difference in frequency between patients and controls. GPR54 gene rs350131 polymorphism (G/T) was detected more frequently in our study population. The heterozygous allele (AG) of GPR54 gene novel polymorphism chr19:918686 showed a marginal association with serum kisspeptin levels (p=0.053). Genetic variations in GPR54 and Kiss1 genes are unlikely to be associated with PCOS among Sri Lankan women manifesting from adolescence. Meanwhile the heterozygous allele of chr19:918686 is probably associated with serum kisspeptin concentrations, which suggests a potential role in the aetiology of PCOS.

2015 ◽  
Vol 172 (3) ◽  
pp. 227-233 ◽  
Author(s):  
Rong Ju ◽  
Wei Wu ◽  
Juan Fei ◽  
Yufeng Qin ◽  
Qiuqin Tang ◽  
...  

ObjectiveTo assess whether single nucleotide polymorphisms of HSD17B5 (AKR1C3) (rs1937845 and rs12529) and HSD17B6 (rs898611) are associated with polycystic ovary syndrome (PCOS) in a Chinese population.DesignA case–control study was conducted to investigate the relation between HSD17B5 and HSD17B6 polymorphisms and PCOS.MethodsIn this study, 335 patients with PCOS and 354 controls were recruited. The genotypes of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) were detected by the TaqMan method.Results and conclusionsWe found that the genotypic frequencies of the rs1937845 polymorphism were different in subjects with PCOS compared with control, with the CT genotype being more commonly found in patients with PCOS than in controls (P=0.005). We observed a significantly 1.74-fold higher risk of CT genotype in the polymorphism rs1937845 in women with PCOS vs the control group (adjusted odds ratio (OR), 1.74; 95% CI=1.19–2.54; P=0.005). A similar, significant 1.47-fold higher risk (adjusted OR, 1.47; 95% CI=1.07–2.03; P=0.018) was demonstrated for T allele of polymorphism rs1937845 associated with PCOS. In patients with PCOS, the rs12529 (G>C) and rs1937845 (C>T) polymorphisms were strongly associated with the high level of testosterone. The TT carriers of polymorphism rs1937845 had a significantly increased homeostatic model assessment-B% (HOMA-B%) (P=0.045) and that might be associated with the high risk of insulin resistance. However, no significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls. Additionally, the two polymorphisms of HSD17B5 are associated with hyperandrogenemia in patients with PCOS. In conclusion, our findings showed a significant statistical association between HSD17B5 rs1937845 and PCOS risk in Chinese women. The CT genotype and T allele frequency are influenced significantly to a higher extent in patients with PCOS than controls. Further studies are needed to confirm the results and find out the exact molecular mechanism of the polymorphism on the risk of hyperandrogenemia and PCOS.


2016 ◽  
Vol 69 (9-10) ◽  
pp. 274-280 ◽  
Author(s):  
Andreja Misir ◽  
Ines Banjari ◽  
Igor Loncar

Introduction. This study was aimed at comparing diets, dietary patterns and lifestyle habits of women with polycystic ovary syndrome and controls in Croatia. Material and Methods. In this pilot, matched pair study, the participants were women of reproductive age: 12 with Polycystic Ovary Syndrome and 16 healthy (between the ages of 18 and 41 years). The following data sets were collected and analysed: nutrient intake, dietary habits and physical activity, polycystic ovary syndrome symptoms, anthropometry and biochemical records. Results. The analyses of dietary habits showed a significantly (p=0.030) higher score for the controls (92.4?8.7 points) compared to the women with polycystic ovary syndrome (83.3?12.2 points). There was a significant correlation between the age and intake of total carbohydrates, and intake of plant protein in the women with polycystic ovary syndrome. A significant correlation was found between the age and total fats intake, as well as intake of different types of fats, and energy intake in the controls. The free time activity index showed a significant difference (t-test: p=0.043, ANOVA: p=0.004) in favour of the control group of women who were more active. Conclusions. This study has shown that Croatian women with polycystic ovary syndrome compared to the controls have significantly poorer dietary habits characterised by high Glycaemic Index diets, they are less physically active during free time, and have positive significant correlation between the age and carbohydrate intake whereas the controls have positive significant correlation between the age and fat intake.


2020 ◽  
Vol 8 (4) ◽  
pp. 368-375
Author(s):  
Fauzia Tabassum ◽  
Hemali Heidi Sinha ◽  
Kavita Dhar ◽  
Chandra Jyoti ◽  
Md Sayeed Akhtar ◽  
...  

Objectives: Polycystic ovary syndrome (PCOS) is a multifaceted endocrine disorder in reproductive age having a greater impact on health-related quality of life (HRQOL). The aim of this study was to find out PCOS demographics and its related HRQOL effects for improving psychological understanding in disease management. Materials and Methods: A prospective questionnaire-based study was conducted for a period of twelve months at All India Institute of Medical Sciences, Patna, India. The data of 100 PCOS cases were collected about socio-demographic status, clinical history, and dietary intake. Then, a validated PCOS questionnaire (PCOSQ) was used to observe the impact of PCOS symptoms on patients’ HRQOL. Results: The overall 57% and 48% of PCOS cases belonged to the age range of 20-30 years and had a body mass index (BMI) of >25-30, respectively. Based on the results, a significant difference was observed in the mean score of PCOSQ vs. marital status in PCOS cases with respect to emotion (P=0.039), body weight (P=0.002), and infertility (P=0.001). Furthermore, the result showed a significant difference in the domain of emotion (P=0.008), body hair (P=0.035), body weight (P<0.001), and infertility (P=0.018) among BMI group, and a high score was observed in the BMI group <18 in comparison to the other groups of BMI. Conclusions: In general, our findings indicated that infertility, emotions, and BMI had extremely higher impacts on the HRQOL of women suffering from PCOS although their educational status failed to affect HRQOL.


2018 ◽  
Vol 28 (3) ◽  
pp. 151
Author(s):  
Wafa R. AlFatlawi

Polycystic ovary syndrome (PCOS) is one of the most common female endocrine disorders and affect approximately (5-10) % of women of reproductive age. Anti-Müllerian hormone (AMH) is a homodimeric glycoprotein, a member of the transforming growth factor-β superfamily, it is secreted exclusively from women by granulose cells of ovarian follicles and it is considered as the precise marker of follicle pool size. AMH has been shown to be a good surrogate marker for polycystic ovary syndrome (PCOS). Interleukins are considered as strong risk markers of inflammation. Interleukin-36 gamma (IL36) also known as interleukin-1 family member 9 (IL1F9) is a protein that in humans is encoded by the IL36G gene. Serum samples were collected on day 2 of the menstrual cycle. Serum IL36ɣ, FSH and LH concentration were measured by using ELISA. This study aimed to evaluate the association between IL36ɣ and AMH and study the relationship between obesity and AMH of women in the age of reproductive (25-35) yrs. This study included 28 infertile women with PCOS their husbands were apparently normal (hormones and seminal fluid analysis), their aged (25-35) years, and 20 healthy women aged (25-33) years as control. All control women & patients were from outpatients unit of Alkadumia teaching hospital at Baghdad and all the parameters were measured in Sigma Laboratory. Serum IL-36 ɣ elevated in PCOS patients mainly those with high AMH levels. This hormone increased in PCOS patients compared with control. There was a non-significant difference between patients and control to LH and FSH levels.


Author(s):  
SZainab Shnewer Mehdi ◽  
Batool Abdul Wahid Hashim ◽  
Baneen Chasib Jabal

This study was conducted at the Fertility Center at Al-Sadr Teaching Hospital in Najaf Governorate from 16/10/2016 to 10/3/2017 to determine the relationship between thyroid disorders and polycystic ovary syndrome in women of reproductive age. There was no significant difference in body mass and age for thyroid function. The study as well showed not significant difference in T3 and T4 levels when comparing the two groups, but there was a significant difference (P less than 0.05) in the TSH level, which is higher in the patients. It is concluded that there is a relationship between thyroid disorders and PCOS due to increased TSH in women with the syndrome.


Author(s):  
Khushboo Suresh Shinde ◽  
Sunil Somnath Patil

Background: Polycystic Ovary Syndrome (PCOS) is an endocrine disorder affecting women of reproductive age group. Though its incidence is markedly increasing, the awareness is still low; as a result it remains undiagnosed. Aim of this study was to find the incidence and risk factors of PCOS among women in reproductive age group, so as to encourage young women to seek timely treatment and prevent its long term complications.Methods: A study was conducted over a period of 1 year amongst 100 women attending the Gynecology OPD using a paper based questionnaire. General examination and the required laboratory tests were done to confirm the diagnosis.Results: It was found that the incidence of PCOS among the study population was 21%. Risk factors include lack of physical activity, irregular menstrual cycle, body mass index more than 25, and Waist-hip ratio above 0.86.Conclusions: It is seen that there is a need to educate women at an early stage to prevent the development of this syndrome and its early detection by them. This will facilitate the health professionals to start the treatment at a stage where the complications have not yet set in.


2020 ◽  
Vol 16 ◽  
Author(s):  
Antonio Schiattarella ◽  
Gaetano Riemma ◽  
Marco La Verde ◽  
Gianluigi Franci ◽  
Annalisa Chianese ◽  
...  

: Polycystic ovary syndrome (PCOS) is a condition that affects about 15% of women of reproductive age and is correlated with infertility, insulin resistance, and obesity. The etiology of PCOS is multifactorial and genetic, endocrine, and metabolic causes were involved. New evidence suggests a link between microorganisms residing in the digestive tracts of humans and the development of PCOS. Moreover, an imbalance in the gut microbial community could be a possible factor for the onset of insulin resistance and obesity. Hyperandrogenism, a key feature of PCOS, could also play a critical role in shaping the microbiome community. Probiotics could modify the gut microbiota and serve as a potential treatment for PCOS. Here we disclose the association between PCOS and intestinal microbiota and the possible role of probiotics as a new treatment approach.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sairish Ashraf ◽  
Shayaq Ul Abeer Rasool ◽  
Mudasar Nabi ◽  
Mohd Ashraf Ganie ◽  
Shariq R. Masoodi ◽  
...  

AbstractPolycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.


Author(s):  
Carrie Riestenberg ◽  
Anika Jagasia ◽  
Daniela Markovic ◽  
Richard P Buyalos ◽  
Ricardo Azziz

Abstract Context Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive-aged women, affecting approximately 5-20% of women of reproductive age. A previous estimate noted that the economic burden of PCOS approximates $3.7 billion annually in 2020 USD when considering only the costs of the initial diagnosis and of reproductive endocrine morbidities, not considering the costs of pregnancy-related and long-term morbidities. Objective To estimate the excess prevalence and economic burden of pregnancy-related and long-term health morbidities attributable to PCOS. Data Sources PubMed, EmBase and Cochrane Library. Study Selection Studies in which the diagnosis of PCOS was consistent with the Rotterdam, National Institutes of Health (NIH), or Androgen Excess & PCOS (AE-PCOS) Society criteria, or that used electronic medical record diagnosis codes, or diagnosis based on histopathologic sampling were eligible for inclusion. Studies that included an outcome of interest and a control group of non-PCOS patients who were matched or controlled for body mass index (BMI) were included. Data Extraction Two investigators working independently extracted data on study characteristics and outcomes. Data Synthesis Data was pooled using random-effects meta-analysis. The I 2statistic was used to assess inter-study heterogeneity. The quality of selected studies was assessed using the Newcastle-Ottawa Scale. Results The additional total healthcare-related economic burden due to pregnancy-related and long-term morbidities associated with PCOS in the United States is estimated to be $4.3 billion annually in 2020 USD. Conclusions Together with our prior analysis, the economic burden of PCOS is estimated at $8 billion annually in 2020 USD.


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