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).
journal_name
Int J Endocrinoljournal_title
International journal of endocrinologyauthors
Souza Mario Bueno L,Rosset C,Aguiar E,Pereira Fde S,Izetti Ribeiro P,Scalco R,Matzenbacher Bittar C,Brinckmann Oliveira Netto C,Gischkow Rucatti G,Chies JA,Camey SA,Ashton-Prolla Pdoi
10.1155/2015/402838subject
Has Abstractpub_date
2015-01-01 00:00:00pages
402838eissn
1687-8337issn
1687-8345journal_volume
2015pub_type
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