PMID- 30066819 OWN - NLM STAT- MEDLINE DCOM- 20190516 LR - 20220408 IS - 1984-0462 (Electronic) IS - 0103-0582 (Print) IS - 0103-0582 (Linking) VI - 36 IP - 3 DP - 2018 Jul-Sep TI - VITAMIN D RECEPTOR GENE MUTATIONS AND VITAMIN D SERUM LEVELS IN ASTHMATIC CHILDREN. PG - 269-274 LID - 10.1590/1984-0462/;2018;36;3;00016 [doi] AB - OBJECTIVE: To verify the relationship between polymorphisms of the vitamin D receptor gene (VDR), clinical findings, and serum vitamin D (VD) levels in asthmatics. METHODS: A cross sectional study of 77 children aged 7 to 14 years old, who were attended at a specialized clinic. The children were divided into 3 groups: asthmatics who had been using inhaled corticosteroids (ICS) for more than one year; asthmatics who had not been using ICS; non-asthmatics, and children without allergies (according to the International Study of Asthma and Allergies in Childhood -- ISAAC). Spirometry, skin prick tests, the presence of a VDR promoter CDX2 polymorphism from an allele-specific polimerase chain reaction (PCR), exons 2 and 3 polymorphisms genotyping by PCR-SSCA (single-strand conformational analysis), total immunoglobulin E (IgE) and specific IgE to mites and grass were evaluated in these three groups. Levels of 25-hydroxyvitamin D were determined in asthmatics only. RESULTS: The mean age of the children was 10.8+/-2.0 years old, 57% were male, 38 were asthmatic and using ICS, 22 were asthmatic and not using ICS, and 17 were non-asthmatic. Allergic rhinitis was present in 90% of asthmatics. Homozygous CDX2 was detected in 23% of the patients and absent in the control group (p=0.03). Lower forced expiratory volume in 1 second (FEV1%) values were observed in CDX2 homozygous asthmatics (p=0.001). Variations in the exon 2 and 3 sequences were not related to asthma or the other tests. VD deficiency or insufficiency was detected in 98% of asthmatics. There was no association between VD levels and genetic polymorphisms from exons 2 and 3. CONCLUSIONS: There was a positive association between homozygous CDX2 polymorphism, asthma and lower FEV1% values. CDX2 is capable of modifying cell interaction between VDR and VD, and it could be associated with the prevalence of asthma, and the difficulty in controlling the disease. FAU - Santos, Hevertton Luiz Bozzo Silva AU - Santos HLBS AD - Universidade Federal do Parana, Curitiba, PR, Brasil. FAU - Silva, Silvia de Souza E AU - Silva SSE AD - Faculdades Integradas do Brasil, Curitiba, PR, Brasil. FAU - Paula, Estela de AU - Paula E AD - Faculdades Integradas do Brasil, Curitiba, PR, Brasil. FAU - Pereira-Ferrari, Lilian AU - Pereira-Ferrari L AD - Centro Universitario Autonomo do Brasil, Curitiba, PR, Brasil. FAU - Mikami, Liya AU - Mikami L AD - Centro Universitario Autonomo do Brasil, Curitiba, PR, Brasil. FAU - Riedi, Carlos Antonio AU - Riedi CA AD - Universidade Federal do Parana, Curitiba, PR, Brasil. FAU - Chong-Neto, Herberto Jose AU - Chong-Neto HJ AD - Universidade Federal do Parana, Curitiba, PR, Brasil. FAU - Rosario, Nelson Augusto AU - Rosario NA AD - Universidade Federal do Parana, Curitiba, PR, Brasil. LA - por LA - eng PT - Journal Article PT - Observational Study TT - MUTACOES DO GENE DO RECEPTOR DE VITAMINA D E NIVEIS SERICOS DE VITAMINA D EM CRIANCAS COM ASMA. DEP - 20180726 PL - Brazil TA - Rev Paul Pediatr JT - Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo JID - 9109353 RN - 0 (Adrenal Cortex Hormones) RN - 0 (Receptors, Calcitriol) RN - 0 (VDR protein, human) RN - 1406-16-2 (Vitamin D) RN - SY7Q814VUP (Calcium) SB - IM MH - Adolescent MH - Adrenal Cortex Hormones/therapeutic use MH - Asthma/*blood/drug therapy MH - Calcium/blood MH - Child MH - Cross-Sectional Studies MH - Female MH - Humans MH - Male MH - Mutation MH - Polymorphism, Genetic MH - Receptors, Calcitriol/*genetics MH - Vitamin D/*blood PMC - PMC6202901 COIS- Conflict of interests: The authors declare no conflict of interests. EDAT- 2018/08/02 06:00 MHDA- 2019/05/17 06:00 PMCR- 2018/07/01 CRDT- 2018/08/02 06:00 PHST- 2017/04/12 00:00 [received] PHST- 2017/09/22 00:00 [accepted] PHST- 2018/08/02 06:00 [pubmed] PHST- 2019/05/17 06:00 [medline] PHST- 2018/08/02 06:00 [entrez] PHST- 2018/07/01 00:00 [pmc-release] AID - S0103-05822018005008102 [pii] AID - 10.1590/1984-0462/;2018;36;3;00016 [doi] PST - ppublish SO - Rev Paul Pediatr. 2018 Jul-Sep;36(3):269-274. doi: 10.1590/1984-0462/;2018;36;3;00016. Epub 2018 Jul 26.