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Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS

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Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women. In recent years, the effects of vitamin D receptor (VDR) gene variants and VitD3 levels on clinical features of PCOS have been frequently described. In this study, we aimed to determine the relationship between VDR ApaI, TaqI and Cdx2 gene variants and VitD3 levels in PCOS patients. Patients were divided into two groups: BMI<25 and BMI≥25. VDR genotypes were determined by real-time polymerase chain reaction (PCR) and serum VitD3 levels were examined by ELISA. We observed that frequencies of the Apa1 AC genotype, C allele and Cdx2 T allele are increased in the BMI≥25 group compared to BMI<25 group. Also, the ApaI C allele, Taq1 AA genotype and A allele, Cdx2 CC genotype and C allele are associated with increased triglyceride, total cholesterol, LDL-cholesterol levels in patients with BMI≥25. When examining the relationship between VitD3 levels and clinical profiles in all PCOS patients, regardless of BMI distinction, it is determined that there is a positive correlation between LDL-cholesterol and ftestosterone levels. The present findings suggest that VDR variants are one of the most important risk factors for PCOS, especially for patients with BMI≥25.

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References

  • Abouzid M., Główka A. K. and Karaźniewicz-Łada M. 2021 Trend research of vitamin D receptor: Bibliometric analysis. Health Informatics J. 27, 1–14.

    Article  Google Scholar 

  • Al Thomali A., Daghestani M. H., Daghestani M. H., Kaya N. and Warsy A. 2018 Polymorphic variations in VDR gene in Saudi women with and without polycystic ovary syndrome (PCOS) and significant influence of seven polymorphic sites on anthropometric and hormonal parameters. J. Med. Biochem. 37, 415–425.

    Article  Google Scholar 

  • Albahlol I. A., Neamatallah M., Serria M. S., El-Gilany A. H., Setate Y. A., Alkasaby N. M. et al. 2023 Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility. BMC Med. Genomics 16, 108.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Anagnostis P., Karras S. and Goulis D. G. 2013 Vitamin D in human reproduction: a narrative review. Int. J. Clin. Pract. 67, 225–235.

    Article  CAS  PubMed  Google Scholar 

  • Bedel A., Tuhan H., İsmailoğlu E., Özalp K. ızılay D. and Acar S. 2022 Obez ve Obez Olmayan Polikistik Over Sendromlu Adolesanların Klinik ve Laboratuvar Özelliklerinin Karşılaştırılması. Akd. Tıp D. 8, 75–81.

    Article  Google Scholar 

  • Cai W. Y., Luo X., Ma H. L., Shao X. G. and Wu X. K. 2022 Association between preconception serum lipid concentrations and treatment outcomes in women with PCOS who underwent ovulation induction. Reprod. Biomed. Online 29(45), 805–814.

    Article  Google Scholar 

  • Costello M. F., Misso M. L., Wong J., Hart R., Rombauts L., Melder A. et al. 2012 The treatment of infertility in polycystic ovary syndrome: a brief update. Aust. N. Z. J. Obstet. Gynaecol. 52, 400–403.

    Article  PubMed  Google Scholar 

  • Dasgupta S., Dutta J., Annamaneni S., Kudugunti N. and Battini M. R. 2015 Association of vitamin D receptor gene polymorphisms with polycystic ovary syndrome among Indian women. Indian J. Med. Res. 142, 276–285.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gaasenbeek M., Powell B. L., Sovio U., Haddad L., Gharani N., Bennett A. et al. 2004 Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. J. Clin. Endocrinol. Metab. 89, 2408–2413.

    Article  CAS  PubMed  Google Scholar 

  • Gokosmanoglu F., Onmez A. and Ergenç H. 2020 The relationship between Vitamin D deficiency and polycystic ovary syndrome. Afr. Health Sci. 20, 1880–1886.

    Article  PubMed  PubMed Central  Google Scholar 

  • Grundmann M. and von Versen-Hoynck F. 2011 Vitamin D—roles in women’s reproductive health? Reprod. Biol. Endocrinol. 9, 146.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hahn S., Haselhorst U., Tan S., Quadbeck B., Schmidt M., Roesler S. et al. 2006 Low serum 25-hydroxyvitamin D concentrations are associated with insulin resistance and obesity in women with polycystic ovary syndrome. Exp. Clin. Endocrinol. Diabetes 114, 577–583.

    Article  CAS  PubMed  Google Scholar 

  • Li H. W., Brereton R. E., Anderson R. A., Wallace A. M. and Ho C. K. 2011 Vitamin D deficiency is common and associated with metabolic risk factors in patients with polycystic ovary syndrome. Metabolism 60, 1475–1481.

    Article  CAS  PubMed  Google Scholar 

  • Lone N. M., Riaz S., Eusaph A. Z., Mein C. A., Wozniak E. L., Xenakis T. et al. 2020 Genotype-independent association between vitamin D deficiency and polycystic ovarian syndrome in Lahore. Pakistan Sci. Rep. 10, 2290.

    Article  CAS  PubMed  Google Scholar 

  • Newman C. B. 2023 Effects of endocrine disorders on lipids and lipoproteins. Best Pract. Res. Clin. Endocrinol. Metab. 37, 101667.

    Article  CAS  PubMed  Google Scholar 

  • Peeva M., Badeghiesh A., Baghlaf H. and Dahan M. H. 2022 Association between obesity in women with polycystic ovary syndrome and adverse obstetric outcomes. Reprod. Biomed. Online 45, 159–167.

    Article  CAS  PubMed  Google Scholar 

  • Reis G. V., Gontijo N. A., Rodrigues K. F., Alves M. T., Ferreira C. N. and Gomes K. B. 2017 Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review. J. Obstet. Gynaecol. Res. 43, 436–446.

    Article  PubMed  Google Scholar 

  • Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group 2004 Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum. Reprod. 19, 41–47.

    Article  Google Scholar 

  • Santos B. R., Lecke S. B. and Spritzer P. M. 2018 Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome: a cross-sectional study. Reprod. Biol. Endocrinol. 16, 38.

    Article  PubMed  PubMed Central  Google Scholar 

  • Setji T. L. and Brown A. J. 2014 Polycystic ovary syndrome: update on diagnosis and treatment. Am. J. Med. 127, 912–919.

    Article  PubMed  Google Scholar 

  • Shi X. Y., Huang A. P., Xie D. W. and Yu X. L. 2019 Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis. BMC Med. Genet. 20, 32.

    Article  PubMed  PubMed Central  Google Scholar 

  • Vulcan T., Filip G. A., Lenghel L. M., Suciu T., Ilut P. and Procopciuc L. M. 2021 Polymorphisms of vitamin D receptor and the effect on metabolic and endocrine abnormalities in polycystic ovary syndrome: a review. Horm. Metab. Res. 53, 645–653.

    Article  CAS  PubMed  Google Scholar 

  • Xavier L. B., Gontijo N. A., Rodrigues K. F., Cândido A. L., Dos Reis F. M., de Sousa M. C. R. et al. 2019 Polymorphisms in vitamin D receptor gene, but not vitamin D levels, are associated with polycystic ovary syndrome in Brazilian women. Gynecol. Endocrinol. 35, 146–149.

    Article  CAS  PubMed  Google Scholar 

  • Zadeh-Vakili A., Ramezani Tehrani F., Daneshpour M. S., Zarkesh M., Saadat N. and Azizi F. 2013 Genetic polymorphism of vitamin D receptor gene affects the phenotype of PCOS. Gene 515, 193–196.

    Article  CAS  PubMed  Google Scholar 

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Acknowledgement

This work was funded by Scientific Research Projects Coordination Unit of Istanbul University (Project No: 31687).

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Authors and Affiliations

  1. Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey

    Zümrüt Mine Işik Sağlam, Merve Nur Ataş & H. Arzu Ergen

  2. Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Turkey

    Zümrüt Mine Işik Sağlam & Merve Nur Ataş

  3. Clinic of Gynecology and Obstetrics, Haseki Training and Research Hospital, University of Health Sciences, Istanbul, Turkey

    Vuslat Lale Bakir

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  1. Zümrüt Mine Işik Sağlam
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  2. Vuslat Lale Bakir
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  3. Merve Nur Ataş
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  4. H. Arzu Ergen
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Contributions

VLB and ZMIS: data processing, collection, perform experiment; ZMIS and MNA: study conception and/or design; AE: analysis and ınterpretation of results, critical revision or editing of the article.

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Correspondence to H. Arzu Ergen.

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Corresponding editor: Divya Tej Sowpati

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Sağlam, Z.M.I., Bakir, V.L., Ataş, M.N. et al. Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS. J Genet 103, 7 (2024). https://doi.org/10.1007/s12041-023-01461-7

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  • DOI: https://doi.org/10.1007/s12041-023-01461-7

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