scholarly journals Vitamin D receptor and binding protein polymorphisms in women with polycystic ovary syndrome: a case control study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Do Kyeong Song ◽  
Hyejin Lee ◽  
Young Sun Hong ◽  
Yeon-Ah Sung

Abstract Background Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age, characterized by hyperandrogenism, oligomenorrhea, polycystic ovary morphology, and insulin resistance. Vitamin D deficiency and vitamin D receptor (VDR)/vitamin D binding protein (VDBP) gene variants could play an important role in susceptibility to PCOS and contribute to metabolic disturbances and menstrual dysfunction. We aimed to investigate the associations of VDR gene and VDBP gene polymorphisms with PCOS susceptibility and to elucidate the impacts of these polymorphisms on the hormonal and metabolic parameters of PCOS. Methods We recruited 432 women with PCOS and 927 controls. Polymorphisms in the VDR gene (VDR Fok-I, Cdx2, Apa-I, and Bsm-I) and VDBP gene (VDBP rs4588, rs7041, and rs22822679) were genotyped. A 75-g oral glucose tolerance test was performed. Results The distributions of genotypes and allele frequencies in VDR and VDBP genes did not differ between PCOS and control. In women with PCOS, compared to the VDR Fok-I GG genotype, the VDR Fok-I AG genotype was significantly associated with increased levels of total testosterone (β = 5.537, P = 0.005). Compared to the VDR Cdx2 AC genotype, the VDR Cdx2 CC genotype was associated with increased levels of fasting insulin and HOMA-IR in women with PCOS, however, the associations were not statistically significant. Conclusions This finding indicates that genetic variations in VDR and VDBP were not associated with increased risk for PCOS. In contrast, the VDR Fok-I polymorphism was associated with testosterone level and the Cdx2 polymorphism with insulin sensitivity in PCOS. However, the Cdx2 polymorphism was not significantly associated with increased insulin and insulin sensitivity in women with PCOS after multiple linear regression.

2011 ◽  
Vol 164 (5) ◽  
pp. 741-749 ◽  
Author(s):  
Elisabeth Wehr ◽  
Olivia Trummer ◽  
Albrecht Giuliani ◽  
Hans-Jürgen Gruber ◽  
Thomas R Pieber ◽  
...  

IntroductionWomen with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances including insulin resistance (IR), which might be related to vitamin D metabolism. We aimed to investigate the association of polymorphisms in the vitamin D receptor (VDR) gene as well as vitamin D level-associated genes with metabolic and endocrine parameters in PCOS women. Moreover, we examined whether there are associations with PCOS susceptibility.MethodsMetabolic, endocrine, and anthropometric measurements and oral glucose tolerance tests were performed in 545 PCOS and 145 control women. Genotyping of VDR (Cdx2, Bsm-I, Fok-I, Apa-I, and Taq-I), GC, DHCR7, and CYP2R1 polymorphisms was performed.Results25-Hydroxyvitamin D (25(OH)D) levels showed significant negative correlation with IR and positive correlation with insulin sensitivity (P<0.05 for all) in PCOS women. In PCOS women, the VDR Cdx2 ‘AA’ genotype was associated with lower fasting insulin (P=0.039) and homeostatic model assessment-IR (P=0.041) and higher quantitative insulin-sensitivity check index (P=0.012) and MATSUDA index (P=0.003). The VDR Apa-I ‘AA’ genotype was associated with lower testosterone (P=0.028) levels. In PCOS women, 170 women (31.2%) presented with 25(OH)D levels <20 ng/ml. PCOS women carrying the GC ‘GG’ genotype and the DHCR7 ‘GG’ genotype had a significantly higher risk for 25(OH)D levels <20 ng/ml (OR 2.53 (1.27–5.06), P=0.009, and OR 2.66 (1.08–6.55), P=0.033 respectively) compared with PCOS women carrying the GC ‘TT’ genotype and DHCR ‘TT’ genotype in multivariate analyses. We observed no association of genetic variations and PCOS susceptibility.ConclusionVDR and vitamin D level-related variants are associated with metabolic and endocrine parameters including 25(OH)D levels in PCOS women.


Author(s):  
Nasim Ramezani ◽  
Maryam Ostadsharif ◽  
Hashem Nayeri

Background: Polycystic ovarian syndrome (PCOS) is an endocrine disorder that affects women’s fertility and causes alterations such as obesity, insulin resistance, menstrual irregularities, and polycystic ovaries. The results of the studies show that the issue of vitamin D and vitamin D receptor (VDR) is controversial for PCOS susceptibility. Objective: To investigate the association of BsmI polymorphism in the VDR gene with metabolic parameters in obese PCOS women. Materials and Methods: In this case-control study, 38 obese subjects with PCOS and 40 unrelated obese individuals were evaluated to determine the allelic and genotypic frequency of BsmI variant by Polymerase Chain Reaction Restriction Fragment Length Polymorphism method. Body Mass Index, parathyroid hormone, phosphorus, and calcium were evaluated in all participants. Results: BsmI (rs1544410), (A/G) AA, AG, GG, A, and G percentage of genotypic/allelic frequencies were 65.8, 26.3, 7.9, 78.9, and 21.1 in cases and 57.5, 40, 2.5, 77.5, and 22.5 in controls, respectively. Statistical analysis revealed that the differences in genotypic (p = 0.31)/allelic (p = 0.83) frequencies and dominant (p = 0.45)/recessive (p = 0.35) models between the cases and controls were not significant. This study indicates no association between the BsmI genotypes and metabolic parameters. Conclusion: It can be concluded that VDR BsmI (rs1544410) Intron 8 (A > G) was not associated with obesity along with PCOS susceptibility in the studied groups. Key words: Vitamin D receptor, Polycystic ovary syndrome, Genetic association study.


2019 ◽  
Vol 36 (6) ◽  
pp. 1281-1289 ◽  
Author(s):  
Monika Szafarowska ◽  
Edyta Dziech ◽  
Beata Kaleta ◽  
Monika Kniotek ◽  
Artur Rogowski ◽  
...  

2018 ◽  
Vol 37 (4) ◽  
pp. 415-425 ◽  
Author(s):  
Arwa Al Thomali ◽  
Maha H. Daghestani ◽  
Mazin H. Daghestani ◽  
Namik Kaya ◽  
Arjumand Warsy

SummaryBackground:This study was designed to evaluate the associations between vitamin D receptor (VDR) gene polymorphisms and biochemical characteristics of Saudi women with polycystic ovary syndrome (PCOS).Methods:Serum levels of LH, FSH, and Vitamin D were measured in 33 women: 16 patients and 17 normal controls (18 to 36 years). DNA was extracted and used for sequencing of the exons ofVDRgene using ABI PRISM 3730xi Genetic Analyzer.Results:Weight, BMI, Vit D, LH and FSH levels were higher in the PCOS patients compared to control group, where Vit D level correlated positively and significantly with FSH, in the control, but showed a negative and non-significant correlation in the PCOS patients. Sequencing results showed extensive polymorphisms in both groups, but the differences in the frequencies were not significant. Demographic and hormonal parameters were compared in the different genotypes of the SNPs. Significant differences were ob served in the values of the studied parameters in rs11168276, rs11168266, rs3858733, rs121909790, rs11168265 and rs731236. Vitamin D level was influenced significantly by the genotypes of rs11168265 (AA) (p=0.008), rs11168276 (AA; p=0.018) and rs731236 (CC; p=0.024).Conclusion:Vitamin D deficiency does not associate with PCOS in Saudi females. Several SNPs are identified in the VDR gene, in normal and PCOS females, but there is no difference in their frequencies between the two groups. The results show that polymorphism in VDR gene influences certain anthropometric and hormonal parameters in PCOS patients. Further detailed studies are required to confirm the associations between VDR and PCOS.


Author(s):  
Saba M Swadi Al-thuwaynee ◽  
Amaal Raad Ahmed

Objectives: There is limited evidence that giving Vitamin D supplementation had a beneficial effect on insulin resistance and dysfunction of the menstrual cycle in females with polycystic ovary syndrome (PCOS). Thus, the aim of the present study is to evaluate the effect of Vitamin D supplementation on insulin sensitivity and androgen level in Iraqi females with PCOS.Methods: A randomized, blinded clinical trial design studied 60 Iraqi females with PCOS referring to the women’s counseling, outpatients at maternity and pediatrics teaching hospital in AL-Qadisiyah city, Iraq, and private clinic. Non-probabilistic sampling involved women aged from 18 to 45 years established on inclusion criteria. The patients’ basic data have been recorded. Then, we measured Vitamin D, testosterone level, and impaired glucose tolerance (IGT) test to all females. After the diagnosis of Vitamin D deficiency, Vitamin D was administering at 5000 units daily for 8 weeks. All data were remeasured after 2 months.Result: A total of 60 patients with polycystic syndrome enrolled in the study, age range from 18 to 39 years, mean age 27.48±5.95 years. The metabolic parameter have been checked at the beginning of the study, which include Vitamin D level 16.1±5.6, impaired glucose test reading 8.8±0.7 and testosterone level 4.5±0.64.. After 2 months of supplementation, there were 83.7% of patients reach the normal level of Vitamin D and 16.3% still had a low level of Vitamin D (p≤0.002) between two groups. In regard to IGT test after 2 months of supplementation, there were 51.6% of patients still who had impaired test while 48.4% reach the normal reading (p≤0.001).Conclusions: Women with PCOS have a statically significant low level of Vitamin D in mean, IGT test in the mean, and high level of testosterone, and there were inverse correlations between Vitamin D with IGT and testosterone.


2008 ◽  
Vol 159 (2) ◽  
pp. 121-127 ◽  
Author(s):  
Jana Vrbikova ◽  
Martin Hill ◽  
Bela Bendlova ◽  
Tereza Grimmichova ◽  
Katerina Dvorakova ◽  
...  

ObjectivePolycystic ovary syndrome (PCOS) has been linked to a high risk of type 2 diabetes mellitus. Disturbances in the secretion of the incretin hormones glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide 1 (GLP-1) have been observed in states with impaired glucose regulation. This paper considers the secretion of GIP and GLP-1 after oral glucose load in a group of lean, glucose-tolerant PCOS women in comparison with age- and body mass index (BMI)-matched healthy women.DesignCase control.MethodsPCOS (n=21, 25.8±4.1 years, BMI 21.6±1.7 kg/m2) and control healthy women (CT, n=13, 28.5±7.2 years, BMI 20.3±2.5 kg/m2) underwent oral glucose tolerance test (OGTT) with blood sampling for glucose, insulin, C-peptide, total GIP, and active GLP-1. Insulin sensitivity was determined both at fasting and during the test.StatisticsRepeated measures ANOVA.ResultsGlucose levels and insulin sensitivity did not differ between PCOS and CT. PCOS had significantly higher levels of C-peptide (P<0.05) and tended to have higher insulin levels. The levels of total GIP were significantly higher in PCOS than in CT (P<0.001). Active GLP-1 levels exhibited a significantly different time-dependent pattern in PCOS (P<0.002 for PCOS versus time interaction). GLP-1 concentrations were similar in PCOS and CT in the early phase of OGTT and then reached significantly lower levels in PCOS than in CT at 180 min (P<0.05).ConclusionsIncreased total GIP and lower late phase active GLP-1 concentrations during OGTT characterize PCOS women with higher C-peptide secretion in comparison with healthy controls, and may be the early markers of a pre-diabetic state.


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