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Boletín médico del Hospital Infantil de México

versão impressa ISSN 1665-1146


MEDINA-HERNANDEZ, Elba Onelida et al. Prevalence of vitamin D receptor gene polymorphisms in Mexican children with chronic kidney disease. Bol. Med. Hosp. Infant. Mex. [online]. 2012, vol.69, n.2, pp. 104-110. ISSN 1665-1146.

Background. The possible influence of vitamin D receptor (VDR) gene polymorphisms on the regulation of the calcium-parathyroid hormone-vitamin D axis is particularly important in end-stage renal disease (ESRD) patients due to alterations in bone mineral metabolism. The aim of the study was to describe the frequency of VDR gene polymorphisms rs7975232 (ApaI), rs731236 (TaqI), rs1544410 (BsmI) and their relationship with serum calcium, phosphate, alkaline phosphatase and parathyroid hormone in children with ESRD. Methods. Thirty one patients were included in the study. Blood samples were drawn for biochemical determinations and DNA extraction. VDR genotypes were analyzed as restriction fragment length polymorphisms using ApaI, BsmI and TaqI. Results. Mean age of the patients was 15.6 ± 3.6 years. For ApaI, seven patients were AA (22.58%), 18 patients were Aa (58.06%) and six patients were aa (19.35%). For BsmI, 14 patients were BB (45.16%) and 17 were Bb (54.83%). Patients who were homozygous for BB had higher serum calcium concentrations than Bb patients (p = 0.04). For TaqI, 19 patients were TT (61.3%), 11 were Tt (35.48%) and one was tt (3.22%). Those with t allele (Tt or tt) had serum calcium concentrations significantly lower than TT patients. Conclusions. Genotype and allele frequency of the VDR gene is reported in Mexican patients with ESRD. Those with BB or TT genotype had higher serum calcium concentrations.

Palavras-chave : vitamin D receptor; gene polymorphism; renal transplantation; serum calcium; end-stage renal disease.

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