Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil
Joint Authors
Ashton-Prolla, Patricia
Souza Mario Bueno, Larissa
Rosset, Clévia
Aguiar, Ernestina
Pereira, Fernando de Souza
Izetti Ribeiro, Patrícia
Scalco, Rosana
Matzenbacher Bittar, Camila
Brinckmann Oliveira Netto, Cristina
Gischkow Rucatti, Guilherme
Chies, José Artur
Camey, Suzi
Source
International Journal of Endocrinology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-16
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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 ).
American Psychological Association (APA)
Souza Mario Bueno, Larissa& Rosset, Clévia& Aguiar, Ernestina& Pereira, Fernando de Souza& Izetti Ribeiro, Patrícia& Scalco, Rosana…[et al.]. 2015. Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil. International Journal of Endocrinology،Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1065689
Modern Language Association (MLA)
Souza Mario Bueno, Larissa…[et al.]. Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil. International Journal of Endocrinology No. 2015 (2015), pp.1-9.
https://search.emarefa.net/detail/BIM-1065689
American Medical Association (AMA)
Souza Mario Bueno, Larissa& Rosset, Clévia& Aguiar, Ernestina& Pereira, Fernando de Souza& Izetti Ribeiro, Patrícia& Scalco, Rosana…[et al.]. Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil. International Journal of Endocrinology. 2015. Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1065689
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1065689