Advertisement

Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots

  • Gulten Tuncel
  • Sehime Gulsun Temel
  • Mahmut Cerkez ErgorenEmail author
Original Article
  • 59 Downloads

Abstract

Vitamin D is an important molecule to keep teeth, bones and muscles healthy. It is obtained from diet, supplements and primarily from exposure to sunlight. In recent years, vitamin D deficiency is recognised as a worldwide health problem, which results in disturbances in mineral metabolism and skeletal problems. Deficiency might be caused due to sedentary lifestyle, insufficient diet, age as well as some polymorphisms in the VDR gene. In this study the four most common VDR polymorphisms (rs1544410 (BsmI), rs731236 (TaqI), rs7975232 (ApaI) and rs2228570 (FokI)) are investigated in a cohort of Turkish Cypriots and aimed to detect any possible links between low serum vitamin D levels and these variants. The rs2228570 (FokI) variant but not others were shown to have a significant association with decreased serum vitamin D levels in the Turkish Cypriot population.

Keywords

VDR Polymorphism Vitamin D deficiency Cyprus 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no affiliations with or involvement in any organization or entity with any financial or non-financial interest in the subject matter or materials discussed in this article.

Supplementary material

11033_2019_4796_MOESM1_ESM.docx (395 kb)
Supplementary material 1 (DOCX 395 kb)

References

  1. 1.
    Kulie T et al (2009) Vitamin D: an evidence-based review. J Am Board Fam Med 22(6):698–706CrossRefGoogle Scholar
  2. 2.
    Müller DN, Kleinewietfeld M, Kvakan H (2011) Vitamin D review. J Renin Angiotensin Aldosterone Syst 12(2):125–128CrossRefGoogle Scholar
  3. 3.
    Norman AW (2008) From vitamin D to hormone D: fundamentals of the vitamin D endocrine system essential for good health. Am J Clin Nutr 88(2):491s–499sCrossRefGoogle Scholar
  4. 4.
    Nair R, Maseeh A (2012) Vitamin D: the “sunshine” vitamin. J Pharmacol Pharmacother 3(2):118–126Google Scholar
  5. 5.
    Brannon PM et al (2008) Overview of the conference “vitamin D and health in the 21st century: an update”. Am J Clin Nutr 88(2):483s–490sCrossRefGoogle Scholar
  6. 6.
    Haddad JG et al (1993) Human plasma transport of vitamin D after its endogenous synthesis. J Clin Invest 91(6):2552–2555CrossRefGoogle Scholar
  7. 7.
    Glendenning P (2015) Measuring vitamin D. Aust Prescr 38(1):12–15CrossRefGoogle Scholar
  8. 8.
    Pike JW, Meyer MB (2010) The vitamin D receptor: new paradigms for the regulation of gene expression by 1,25-dihydroxyvitamin D3. Endocrinol Metab Clin North Am 39(2):255–269CrossRefGoogle Scholar
  9. 9.
    Makishima M et al (2002) Vitamin D receptor as an intestinal bile acid sensor. Science 296(5571):1313–1316CrossRefGoogle Scholar
  10. 10.
    Bikle DD (2004) Vitamin D regulated keratinocyte differentiation. J Cell Biochem 92(3):436–444CrossRefGoogle Scholar
  11. 11.
    Demay MB et al (2007) Role of the vitamin D receptor in hair follicle biology. J Steroid Biochem Mol Biol 103(3–5):344–346CrossRefGoogle Scholar
  12. 12.
    Hewison M (2010) Vitamin D and the immune system: new perspectives on an old theme. Endocrinol Metab Clin North Am 39(2):365–379CrossRefGoogle Scholar
  13. 13.
    Matyjaszek-Matuszek B, Lenart-Lipińska M, Woźniakowska E (2015) Clinical implications of vitamin D deficiency. Prz Menopauzalny 14(2):75–81Google Scholar
  14. 14.
    Bener A, Al-Hamaq AO, Saleh NM (2013) Association between vitamin D insufficiency and adverse pregnancy outcome: global comparisons. Int J Womens Health 5:523–531CrossRefGoogle Scholar
  15. 15.
    Adams JS, Hewison M (2010) Update in vitamin D. J Clin Endocrinol Metab 95(2):471–478CrossRefGoogle Scholar
  16. 16.
    Valdivielso JM, Fernandez E (2006) Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 371(1–2):1–12CrossRefGoogle Scholar
  17. 17.
    Karonova T et al (2018) Relationship between vitamin D status and vitamin D receptor gene polymorphisms with markers of metabolic syndrome among adults. Front Endocrinol (Lausanne) 9:448CrossRefGoogle Scholar
  18. 18.
    Ingles SA et al (1997) Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst 89(2):166–170CrossRefGoogle Scholar
  19. 19.
    Peters U et al (2001) Vitamin D, calcium, and vitamin D receptor polymorphism in colorectal adenomas. Cancer Epidemiol Biomarkers Prev 10(12):1267–1274Google Scholar
  20. 20.
    Curran JE et al (1999) Association of A vitamin D receptor polymorphism with sporadic breast cancer development. Int J Cancer 83(6):723–726CrossRefGoogle Scholar
  21. 21.
    Yin X et al (2018) Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: a systematic review and meta-analysis. Medicine (Baltimore) 97(2):e9627CrossRefGoogle Scholar
  22. 22.
    Xia CW et al (2007) Vitamin D receptor gene polymorphisms in female adolescent idiopathic scoliosis patients. Zhonghua Yi Xue Za Zhi 87(21):1465–1469Google Scholar
  23. 23.
    Mandelcorn-Monson R et al (2011) Sun exposure, vitamin D receptor polymorphisms FokI and BsmI and risk of multiple primary melanoma. Cancer Epidemiol 35(6):e105–e110CrossRefGoogle Scholar
  24. 24.
    Jiménez-Jiménez FJ et al (2015) Association between vitamin D receptor rs731236 (Taq1) polymorphism and risk for restless legs syndrome in the spanish caucasian population. Medicine (Baltimore) 94(47):e2125CrossRefGoogle Scholar
  25. 25.
    Liu S et al (2017) Association of VDR polymorphisms (Taq I and Bsm I) with prostate cancer: a new meta-analysis. J Int Med Res 45(1):3–10CrossRefGoogle Scholar
  26. 26.
    Dogan I et al (2009) Polymorphisms in the vitamin D receptor gene and risk of lung cancer. Med Sci Monit 15(8):232–242Google Scholar
  27. 27.
    Kim SW et al (2015) Association between vitamin D receptor polymorphisms and osteoporosis in patients with COPD. Int J Chron Obstruct Pulmon Dis 10:1809–1817CrossRefGoogle Scholar
  28. 28.
    Wu J et al (2016) Association between the vitamin D receptor gene polymorphism and osteoporosis. Biomed Rep 5(2):233–236CrossRefGoogle Scholar
  29. 29.
    Chen H, Zhu J (2018) Vitamin D receptor rs2228570 polymorphism and susceptibility to ovarian cancer: an updated meta-analysis. J Obstet Gynaecol Res 44(3):556–565CrossRefGoogle Scholar
  30. 30.
    Cauci S et al (2017) Low back pain and FokI (rs2228570) polymorphism of vitamin D receptor in athletes. BMC Sports Sci Med Rehabil 9:4CrossRefGoogle Scholar
  31. 31.
    Zhou TB et al (2015) Association of vitamin D receptor Fok1 (rs2228570), TaqI (rs731236) and ApaI (rs7975232) gene polymorphism with the risk of chronic kidney disease. J Recept Signal Transduct Res 35(1):58–62CrossRefGoogle Scholar
  32. 32.
    Zhang Y, Wang Z, Ma T (2017) Associations of genetic polymorphisms relevant to metabolic pathway of vitamin D3 with development and prognosis of childhood bronchial asthma. DNA Cell Biol 36(8):682–692CrossRefGoogle Scholar
  33. 33.
    Zhao DD et al (2017) Association of vitamin D receptor gene polymorphisms with susceptibility to childhood asthma: a meta-analysis. Pediatr Pulmonol 52(4):423–429CrossRefGoogle Scholar
  34. 34.
    Han JC et al (2016) Vitamin D receptor polymorphisms may contribute to asthma risk. J Asthma 53(8):790–800CrossRefGoogle Scholar
  35. 35.
    Papadopoulou A et al (2015) Association of vitamin D receptor gene polymorphisms and vitamin D levels with asthma and atopy in Cypriot adolescents: a case-control study. Multidiscip Respir Med 10(1):26CrossRefGoogle Scholar
  36. 36.
    Saadi A et al (2009) Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study. BMC Med Genet 10:71CrossRefGoogle Scholar
  37. 37.
    Ramos-Lopez E et al (2005) Vitamin D receptor polymorphisms are associated with Graves’ disease in German and Polish but not in Serbian patients. Thyroid 15(10):1125–1130CrossRefGoogle Scholar
  38. 38.
    Siddamalla S et al (2018) Vitamin D receptor gene polymorphisms and risk of polycystic ovary syndrome in South Indian women. Gynecol Endocrinol 34(2):161–165CrossRefGoogle Scholar
  39. 39.
    Mukhtar M et al (2017) Vitamin D receptor gene polymorphisms influence T1D susceptibility among Pakistanis. Int J Genomics.  https://doi.org/10.1155/2017/4171254 Google Scholar
  40. 40.
    Angel B et al (2018) The association of VDR polymorphisms and type 2 diabetes in older people living in community in Santiago de Chile. Nutr Diabetes 8:31CrossRefGoogle Scholar
  41. 41.
    Ortlepp JR et al (2001) The vitamin D receptor gene variant is associated with the prevalence of type 2 diabetes mellitus and coronary artery disease. Diabet Med 18(10):842–845CrossRefGoogle Scholar
  42. 42.
    Ban Y et al (2001) Vitamin D receptor initiation codon polymorphism influences genetic susceptibility to type 1 diabetes mellitus in the Japanese population. BMC Med Genet 2:7CrossRefGoogle Scholar
  43. 43.
    Chang TJ et al (2000) Vitamin D receptor gene polymorphisms influence susceptibility to type 1 diabetes mellitus in the Taiwanese population. Clin Endocrinol (Oxf) 52(5):575–580CrossRefGoogle Scholar
  44. 44.
    Saijo T et al (1991) A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am J Hum Genet 49(3):668–673Google Scholar
  45. 45.
    Arai H et al (1997) A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12(6):915–921CrossRefGoogle Scholar
  46. 46.
    Colin EM et al (2000) Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1, 25-dihydroxyvitamin D3. Clin Endocrinol (Oxf) 52(2):211–216CrossRefGoogle Scholar
  47. 47.
    Jia J et al (2018) Vitamin D receptor polymorphism rs2228570 is significantly associated with risk of dyslipidemia and serum LDL levels in Chinese Han population. Lipids Health Dis 17(1):193CrossRefGoogle Scholar
  48. 48.
    Williams S, Malatesta K, Norris K (2009) Vitamin D and chronic kidney disease. Ethn Dis 19(4):S5-8–S5-11Google Scholar
  49. 49.
    Zadro J et al (2017) Mapping the association between vitamin D and low back pain: a systematic review and meta-analysis of observational studies. Pain Physician 20(7):611–640Google Scholar

Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Department of Medical Biology, Faculty of MedicineNear East UniversityNicosiaCyprus
  2. 2.Research Center of Experimental Health Sciences (DESAM)Near East UniversityNicosiaCyprus
  3. 3.Department of Medical Genetics, Faculty of MedicineUludag UniversityBursaTurkey
  4. 4.Department of Histology and Embryology, Faculty of MedicineUludag UniversityBursaTurkey

Personalised recommendations