Article Text

Download PDFPDF

PP-057 The state of vitamin D supply and the influence of VDR gene polymorphisms on the course of cystic fibrosis, asthma, juvenile idiopathic arthritis in children of the Russian federation
  1. Elena Loshkova1,
  2. Elena Kondratyeva1,
  3. Nuriniso Odinaeva2,
  4. Leonid Klimov3,
  5. Natalia Ilyenkova4,
  6. Elena Zhekaite1,
  7. Natalia Geppe5,
  8. Nadezhda Podchernyaeva5,
  9. Svetlana Chebysheva5,
  10. Elena Shitkovskaya4,
  11. Svetlana Dolbnya3,
  12. Victoria Kuryaninova3,
  13. Margarita Tikhaya5,
  14. Yulia Kotova2,
  15. Yulia Melyanovskaya1,
  16. Anna Voronkova1,
  17. Yury Mizernitsky6
  1. 1Medical Genetic Research Center named after. Academician N.P. Bochkova, Moscow
  2. 2Research Institute of Childhood, Ministry of Health of the Moscow Region, Moscow
  3. 3Stavropol State Medical University of the Ministry of Health of Russia, Stavropol
  4. 4Krasnoyarsk State Medical University named after. V.F. Voino-Yasenetsky Ministry of Health of Russia, Krasnoyarsk
  5. 5First Moscow State Medical University named after I.M. Sechenov, Ministry of Health of Russia, Moscow
  6. 6NIKI Pediatrics GBOU VPO RNRMU im. N.I. Pirogov Ministry of Health of Russia, Moscow


Aim To assess the frequency of low vitamin D deficiency and conduct an association search for genetic variants (c.1206T>C, c.152T>C, c.1174+283G>A) of the VDR gene with clinical manifestations, calcidiol levels and response to therapy in cystic fibrosis ( CF), bronchial asthma (BA), juvenile idiopathic arthritis (JIA).

Material and Method 283 patients with cystic fibrosis (CF), 160 with BA, 150 with JIA and 333 healthy children in the control group were examined, and calcidiol content was determined. Testing of polymorphic variants of the VDR gene (c.1206T>C, c.1175–9G>T, c.152T>C, c.1174+283G>A) was carried out using PCR and RFLP analysis.

Results A year-round high incidence of low vitamin D supply was revealed among CF in 50.7%, asthma in 89.6%, and JIA in 74.0%. The occurrence of meconium ileus, decreased lung function, chronic Ps. aeruginosa infection, a chronic lung infection caused by non-fermenting gram-negative bacteria, is higher among carriers of the TT c.152T>C FokI VDR gene genotype in cystic fibrosis. Liver cirrhosis is more often (OR=4.300; p=0.051) realized in carriers of the AA genotype BsmlI (c.1174+283G>A) of the VDR gene. The occurrence of manifestations of the ‘atopic march’ increases many times when carrying the genotype TT c.1206T>C(A>G) TaqI (OR=13.000; p=0.046), genotypes AA and GA BsmlI (c.1174+283G>A) (OR= 18.000; p=0.017). Calcidiol deficiency against the background of asthma is 2.7 times (p = 0.003) more often recorded among carriers of the TT and CT genotypes c.1206T>C(A>G) TaqI of the VDR gene. The risk of systemic onset of JIA, polyarticular variant, high degree of activity, uveitis, high frequency of biological therapy (p <0.05) are carriers of the TT genotype c.1206T>C(A>G) TaqI, TT genotype c.152T>C FokI, genotype AA polymorphism BsmlI (c.1174+283G>A) of the VDR gene.

Conclusions The high frequency of low vitamin D supply, the contribution of VDR gene polymorphisms during the studied diseases and vitamin D supply are shown.

  • VDR gene
  • asthma
  • cystic fibrosis
  • juvenile idiopathic arthritis
  • children

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.