Nutritional rickets: vitamin D, calcium, and the genetic make-up.

Abstract:

BACKGROUND:The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS:Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing. Therapy was stratified in three different protocols. Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were genotyped and their association with clinical and biochemcial data was analyzed. RESULTS:Therapy response was similar in terms of radiological healing although it was not so in terms of biochemical normalization. Only VDR gene (promoter, start-codon, and intronic genotypes) was rickets-associated in terms of serum 25-OH-D, calcium, radiological severity and time needed to heal. Eight patients with sufficient calcium intake and 25-OH-D levels carried a VDR genotype lacking minor allele homozygous genotypes at SNPs spread along the gene. CONCLUSION:Although patients presented epidemiologic factors strongly contributing to rickets, genetic modulation affecting predisposition, severity, and clinical course is exerted, at least in part, by VDR gene polymorphic variation.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

El Kholy M,Elsedfy H,Fernández-Cancio M,Hamza RT,Amr NH,Ahmed AY,Toaima NN,Audí L

doi

10.1038/pr.2016.222

subject

Has Abstract

pub_date

2017-02-01 00:00:00

pages

356-363

issue

2

eissn

0031-3998

issn

1530-0447

pii

pr2016222

journal_volume

81

pub_type

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