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AB0865 Vitamin D Receptor Polymorphisms Are Not Associated with The Risk of Kawasaki Disease (KD) in A Group of Italian Children
  1. F. Falcini1,
  2. F. Marini2,
  3. S. Stagi3,
  4. D. Rigante4,
  5. G. Lepri1,
  6. M. Matucci-Cerinic1,
  7. M.L. Brandi2
  1. 1Department of Internal Medicine, Section of Rheumatology, Transition Clinic
  2. 2Dept. of Surgery and Translational Medicine, University of Florence
  3. 3Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Florence
  4. 4Institute of Pediatrics, Università Cattolica Sacro Cuore, University of Rome, Rome, Italy


Background Kawasaki disease (KD) is an acute multisystemic vasculitis, affecting primarily infants and children, and it is the most common cause of acquired heart disease in Western countries. The exact pathogenesis of KD has not been clearly identified, but infections caused by one or more pathogens are strongly suspected as major cause of the disease. Our previous study demonstrated that KD patients have highly reduced 25(OH)-vitamin D levels in comparison with healthy controls and also with other immunological disorders, suggesting a hypothetical role of vitamin D deficiency in the development of coronary artery damage in KD, and low vitamin D levels might contribute to the severity of chronic vascular abnormalities. Specific polymorphisms of vitamin D receptor (VDR) gene have recently been associated with different biologic response to vitamin D itself.

Objectives 1.To analyze the possible associations of these polymorphisms in a series of Italian children affected by KD. 2. To evaluate a possible influence of VDR polymorphism in enhancing the risk of the disease.

Methods We recruited 50 Italian infants and children affected by typical KD (38 males, 12 females), age ranging from 2 through to 62 months.

Genomic DNA was extracted from peripheral blood leukocytes to analyze VDR polymorphisms by PCR-based sequencing (CDX2 in the promoter region) and PCR-based enzymatic digestions (FokI in exon 2, BsmI and ApaI in intron 8, and TaqI in exon 9).

An Italian population of 2221 unrelated individuals without KD or other immunological disorders was used as healthy controls. The distribution of polymorphism genotypes and alleles was evaluated in patients vs healthy controls.

Results The distribution of all Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms (both as genotypes or alleles) did not show significant differences between affected subjects and healthy controls.

Conclusions In conclusion, this pilot study evidence that VDR polymorphisms seem not to have any influence in determining the risk of KD. Anyway, future larger studies are needed to unravel the exact relationship between VDR genotype and KD development and/or clinical characteristics.

Disclosure of Interest None declared

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