Genetic variation in the vitamin D receptor and polycystic ovary syndrome risk

Mahmoudi, Touraj

doi:10.1016/j.fertnstert.2009.05.002

Cited by 117 publications

(103 citation statements)

References 12 publications

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“…In a cohort of 162 PCOS women and 162 control women, variants of VDR were found to be associated with an increase in insulin levels and IR: the VDR Apa-I genotype was found to be associated with the prevalence of PCOS (42) variable and HOMA-IR as a dependent variable. Of the 29 reviewed studies, 18 examined this correlation and reported the mean and/or median values and were therefore included in this analysis (18,19,20,22,23,24,26,27,28,29,30,33,37,39,40,41,43,45).…”

Section: The Effect Of Vitamin D Supplementation In Women With Pcosmentioning

confidence: 99%

“…Six genetic linkage studies examined VDR and related polymorphisms in relation to PCOS (41,42,43,44,45,46). The number of participants ranged from 56 to 690.…”

Section: The Effect Of Vitamin D Supplementation In Women With Pcosmentioning

confidence: 99%

“…None of the Table 3. Five studies determined the association between VDR polymorphisms and metabolic disturbances in women with PCOS (41,42,43,45,46).…”

Section: The Effect Of Vitamin D Supplementation In Women With Pcosmentioning

confidence: 99%

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The role of vitamin D in metabolic disturbances in polycystic ovary syndrome: a systematic review

Krul-Poel

Snackey

Louwers

et al. 2013

European Journal of Endocrinology

115

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Context: Metabolic disturbances, in particular, insulin resistance (IR) and dyslipidemia, are common in women suffering from polycystic ovary syndrome (PCOS). Evidence is accumulating that vitamin D status may contribute to the development of metabolic disturbances in PCOS. Objective: The aim of this study was to carry out a systematic review addressing the association between vitamin D status, vitamin D receptor polymorphisms, and/or polymorphisms related to vitamin D metabolism and metabolic disturbances in women with PCOS. Design and methods: A systematic search of electronic databases was carried out up to January 2013 for observational studies and clinical trials in women suffering from PCOS with outcome measures that were related to vitamin D status. We conducted univariate and multivariate regression analyses of the weighted means to gain insights into the association between vitamin D, BMI, and IR based on existing literature. Results: We found 29 eligible trials with inconsistency in their results. One well-designed randomized controlled trial has been carried out until now. Univariate regression analyses of the weighted means revealed vitamin D to be a significant and independent predictor of IR in both PCOS and control women. The significance disappeared after adjustment for BMI in PCOS women. Conclusions: Current evidence suggests an inverse association between vitamin D status and metabolic disturbances in PCOS. Owing to the heterogeneity of the studies, it is hard to draw a definite conclusion. The causal relationship between vitamin D status and metabolic disturbances in PCOS remains to be determined in well-designed placebo-controlled randomized clinical trials.

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Section: The Effect Of Vitamin D Supplementation In Women With Pcosmentioning

confidence: 99%

“…Six genetic linkage studies examined VDR and related polymorphisms in relation to PCOS (41,42,43,44,45,46). The number of participants ranged from 56 to 690.…”

Section: The Effect Of Vitamin D Supplementation In Women With Pcosmentioning

confidence: 99%

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The role of vitamin D in metabolic disturbances in polycystic ovary syndrome: a systematic review

Krul-Poel

Snackey

Louwers

et al. 2013

European Journal of Endocrinology

115

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“…Associations between the low 25(OH)D levels and features of metabolic syndrome (77), and between VDR and vitamin D-related polymorphisms and metabolic and endocrine parameters, but not with PCOS susceptibility per se, have been shown (70). However, in PCOS women from Iran, an association of VDR ApaI polymorphisms with PCOS susceptibility was found (40). Vitamin D supplementation is supposed to improve menstrual frequency and metabolic disturbances in women with PCOS, as reviewed recently (78).…”

Section: The Role Of Vitamin D Deficiencymentioning

confidence: 99%

“…In Dutch twins, a tetrachoric correlation of 0.71 and 0.38 in monozygotic twin sisters and in dizygotic twins and other sisters, respectively, was established (31). Several candidate genes have been studied for PCOS, such as those coding for fibrillin 3 (FBN3), INS, INS receptor, insulin receptor substrate 1, transcription factor 7-like 2, calpain 10, the fat mass and obesity associated protein (38,39), SHBG (32), and VDR (40). Results of a large number of candidate gene studies were mostly inconclusive (32).…”

Section: Susceptibility and Candidate Genesmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Thyroid and polycystic ovary syndrome

Gaberšček

Zaletel

Schwetz

et al. 2015

European Journal of Endocrinology

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Thyroid disorders, especially Hashimoto's thyroiditis (HT), and polycystic ovary syndrome (PCOS) are closely associated, based on a number of studies showing a significantly higher prevalence of HT in women with PCOS than in controls. However, the mechanisms of this association are not as clear. Certainly, genetic susceptibility contributes an important part to the development of HT and PCOS. However, a common genetic background has not yet been established. Polymorphisms of the PCOS-related gene for fibrillin 3 (FBN3) could be involved in the pathogenesis of HT and PCOS. Fibrillins influence the activity of transforming growth factor beta (TGFb). Multifunctional TGFb is also a key regulator of immune tolerance by stimulating regulatory T cells (Tregs), which are known to inhibit excessive immune response. With lower TGFb and Treg levels, the autoimmune processes, well known in HT and assumed in PCOS, might develop. In fact, lower levels of TGFb1 were found in HT as well as in PCOS women carrying allele 8 of D19S884 in the FBN3 gene. Additionally, vitamin D deficiency was shown to decrease Tregs. Finally, high estrogen-to-progesterone ratio owing to anovulatory cycles in PCOS women could enhance the immune response. Harmful metabolic and reproductive effects were shown to be more pronounced in women with HT and PCOS when compared with women with HT alone or with controls. In conclusion, HT and PCOS are associated not only with respect to their prevalence, but also with regard to etiology and clinical consequences. However, a possible crosstalk of this association is yet to be elucidated.

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A comprehensive review on the impact of calcium and vitamin D insufficiency and allied metabolic disorders in females

Ahmed

Saleem

Saeed

et al. 2023

Food Science & Nutrition

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Calcium is imperative in maintaining a quality life, particularly during later ages. Its deficiency results in a wide range of metabolic disorders such as dental changes, cataracts, alterations in brain function, and osteoporosis. These deficiencies are more pronounced in females due to increased calcium turnover throughout their life cycle, especially during pregnancy and lactation. Vitamin D perform a central role in the metabolism of calcium. Recent scientific interventions have linked calcium with an array of metabolic disorders in females including hypertension, obesity, premenstrual dysphoric disorder, polycystic ovary syndrome (PCOS), multiple sclerosis, and breast cancer. This review encompasses these female metabolic disorders with special reference to calcium and vitamin D deficiency. This review article aims to present and elaborate on available data regarding the worldwide occurrence of insufficient calcium consumption in females and allied health risks, to provide a basis for formulating strategies and population‐level scientific studies to adequately boost calcium intake and position where required.

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Genetic variation in the vitamin D receptor and polycystic ovary syndrome risk

Cited by 117 publications

References 12 publications

The role of vitamin D in metabolic disturbances in polycystic ovary syndrome: a systematic review

The role of vitamin D in metabolic disturbances in polycystic ovary syndrome: a systematic review

MECHANISMS IN ENDOCRINOLOGY: Thyroid and polycystic ovary syndrome

A comprehensive review on the impact of calcium and vitamin D insufficiency and allied metabolic disorders in females

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