TY  - JOUR
AU  - Stjepanović, Mihailo I.
AU  - Mihailović-Vucinić, Violeta
AU  - Spasovski, Vesna
AU  - Milin-Lazović, Jelena
AU  - Skodrić-Trifunović, Vesna
AU  - Stanković, Sanja
AU  - Anđelković, Marina
AU  - Komazec, Jovana
AU  - Momcilović, Ana
AU  - Santrić-Milicević, Milena
AU  - Pavlović, Sonja
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1210
AB  - Introduction: Sarcoidosis is a rare multisystem granulomatous disease with unknown etiology. The interplay of vitamin D deficiency and genetic polymorphisms in genes coding for the proteins relevant for metabolism of vitamin D is an important, but unexplored area. The aim of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in CYP2R1 (rs10741657), CYP27B1 (rs10877012), DBP (rs7041; rs4588), and VDR (rs2228570) genes and sarcoidosis, as well as the association between these SNPs and 25(OH)D levels in sarcoidosis patients. Material and methods: For that purpose we genotyped 86 sarcoidosis patients and 50 healthy controls using the PCR-RFLP method. Results: Subjects carrying the CC genotype of CYP27B1 rs10877012 have 10 times lower odds of suffering from sarcoidosis. Moreover, DBP rs4588 AA genotype was shown to be a susceptibility factor, where carriers of this genotype had eight times higher odds for developing sarcoidosis. In addition, the A allele of the DBP gene (rs4588) was associated with lower levels of 25(OH)D in sarcoidosis patients. Conclusions: These results suggest that patients with vitamin D deficiency should be regularly tested for genetic modifiers that are related to sarcoidosis in order to prevent development of serious forms of sarcoidosis.
PB  - Termedia Publishing House Ltd, Poznan
T2  - Archives of Medical Science
T1  - Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers
EP  - 1146
IS  - 5
SP  - 1138
VL  - 15
DO  - 10.5114/aoms.2018.79682
ER  - 

@article{
author = "Stjepanović, Mihailo I. and Mihailović-Vucinić, Violeta and Spasovski, Vesna and Milin-Lazović, Jelena and Skodrić-Trifunović, Vesna and Stanković, Sanja and Anđelković, Marina and Komazec, Jovana and Momcilović, Ana and Santrić-Milicević, Milena and Pavlović, Sonja",
year = "2019",
abstract = "Introduction: Sarcoidosis is a rare multisystem granulomatous disease with unknown etiology. The interplay of vitamin D deficiency and genetic polymorphisms in genes coding for the proteins relevant for metabolism of vitamin D is an important, but unexplored area. The aim of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in CYP2R1 (rs10741657), CYP27B1 (rs10877012), DBP (rs7041; rs4588), and VDR (rs2228570) genes and sarcoidosis, as well as the association between these SNPs and 25(OH)D levels in sarcoidosis patients. Material and methods: For that purpose we genotyped 86 sarcoidosis patients and 50 healthy controls using the PCR-RFLP method. Results: Subjects carrying the CC genotype of CYP27B1 rs10877012 have 10 times lower odds of suffering from sarcoidosis. Moreover, DBP rs4588 AA genotype was shown to be a susceptibility factor, where carriers of this genotype had eight times higher odds for developing sarcoidosis. In addition, the A allele of the DBP gene (rs4588) was associated with lower levels of 25(OH)D in sarcoidosis patients. Conclusions: These results suggest that patients with vitamin D deficiency should be regularly tested for genetic modifiers that are related to sarcoidosis in order to prevent development of serious forms of sarcoidosis.",
publisher = "Termedia Publishing House Ltd, Poznan",
journal = "Archives of Medical Science",
title = "Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers",
pages = "1146-1138",
number = "5",
volume = "15",
doi = "10.5114/aoms.2018.79682"
}

Stjepanović, M. I., Mihailović-Vucinić, V., Spasovski, V., Milin-Lazović, J., Skodrić-Trifunović, V., Stanković, S., Anđelković, M., Komazec, J., Momcilović, A., Santrić-Milicević, M.,& Pavlović, S.. (2019). Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers. in Archives of Medical Science
Termedia Publishing House Ltd, Poznan., 15(5), 1138-1146.
https://doi.org/10.5114/aoms.2018.79682

Stjepanović MI, Mihailović-Vucinić V, Spasovski V, Milin-Lazović J, Skodrić-Trifunović V, Stanković S, Anđelković M, Komazec J, Momcilović A, Santrić-Milicević M, Pavlović S. Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers. in Archives of Medical Science. 2019;15(5):1138-1146.
doi:10.5114/aoms.2018.79682 .

Stjepanović, Mihailo I., Mihailović-Vucinić, Violeta, Spasovski, Vesna, Milin-Lazović, Jelena, Skodrić-Trifunović, Vesna, Stanković, Sanja, Anđelković, Marina, Komazec, Jovana, Momcilović, Ana, Santrić-Milicević, Milena, Pavlović, Sonja, "Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers" in Archives of Medical Science, 15, no. 5 (2019):1138-1146,
https://doi.org/10.5114/aoms.2018.79682 . .