title: Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil.
abstract: Neurofibromatosis type 1 (NF1) patients are more likely to have vitamin D deficiency when compared to the general population. This study aimed to determine the levels of 25-OH-vitamin D [25(OH)D] in individuals with NF1 and disease-unaffected controls and analyze FokI and BsmI VDR gene polymorphisms in a case and in a control group. Vitamin D levels were compared between a group of 45 NF1 patients from Southern Brazil and 45 healthy controls matched by sex, skin type, and age. Genotypic and allelic frequencies of VDR gene polymorphisms were obtained from the same NF1 patients and 150 healthy controls. 25(OH)D deficiency or insufficiency was not more frequent in NF1 patients than in controls (p = 0.074). We also did not observe an association between FokI and BsmI VDR gene polymorphisms and vitamin D levels in NF1 patients, suggesting that their deficient or insufficient biochemical phenotypes are not associated with these genetic variants. The differences between the groups in genotypic and allelic frequencies for FokI and BsmI VDR gene polymorphisms were small and did not reach statistical significance. These polymorphisms are in partial linkage disequilibrium and the haplotype frequencies also did not differ in a significant way between the two groups (p = 0.613).
authors.affiliation: Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil ; Programa de Pós Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil ; Universidade Vila Velha, Vila Velha, ES, Brazil ; Hospital Metropolitano, Serra, ES, Brazil.
authors.forename: Larissa
authors.initials: L
authors.lastname: Souza Mario Bueno
authors.affiliation: Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil ; Departamento de Genética, UFRGS, Porto Alegre, RS, Brazil.
authors.forename: Clévia
authors.initials: C
authors.lastname: Rosset
authors.affiliation: Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
authors.forename: Ernestina
authors.initials: E
authors.lastname: Aguiar
authors.affiliation: Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
authors.forename: Fernando de Souza
authors.initials: Fde S
authors.lastname: Pereira
authors.affiliation: Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil ; Programa de Pós Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Izetti Ribeiro
authors.affiliation: Laboratório de Patologia Clínica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
authors.forename: Rosana
authors.initials: R
authors.lastname: Scalco
authors.affiliation: Programa de Pós Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Camila
authors.initials: C
authors.lastname: Matzenbacher Bittar
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
authors.forename: Cristina
authors.initials: C
authors.lastname: Brinckmann Oliveira Netto
authors.affiliation: Departamento de Genética, UFRGS, Porto Alegre, RS, Brazil ; Laboratório de Imunogenética, UFRGS, Porto Alegre, RS, Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Gischkow Rucatti
authors.affiliation: Departamento de Genética, UFRGS, Porto Alegre, RS, Brazil ; Laboratório de Imunogenética, UFRGS, Porto Alegre, RS, Brazil.
authors.forename: José Artur
authors.initials: JA
authors.lastname: Chies
authors.affiliation: Departamento de Estatística, UFRGS, Porto Alegre, RS, Brazil.
authors.forename: Suzi Alves
authors.initials: SA
authors.lastname: Camey
authors.affiliation: Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil ; Programa de Pós Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil ; Departamento de Genética, UFRGS, Porto Alegre, RS, Brazil ; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla