Genes and metabolic pathway of sarcoidosis: Identification of key players and risk modifiers

Stjepanovic, Mihailo I. (55052044500)Mihailo I. (55052044500)StjepanovicMihailovic-Vucinic, Violeta (13410407800)Violeta (13410407800)Mihailovic-VucinicSpasovski, Vesna (26655022200)Vesna (26655022200)SpasovskiMilin-Lazovic, Jelena (57023980700)Jelena (57023980700)Milin-LazovicSkodric-Trifunovic, Vesna (23499690800)Vesna (23499690800)Skodric-TrifunovicStankovic, Sanja (7005216636)Sanja (7005216636)StankovicAndjelkovic, Marina (57197728167)Marina (57197728167)AndjelkovicKomazec, Jovana (57196477706)Jovana (57196477706)KomazecMomcilovic, Ana (57222582752)Ana (57222582752)MomcilovicSantric-Milicevic, Milena (57211144346)Milena (57211144346)Santric-MilicevicPavlovic, Sonja (7006514877)Sonja (7006514877)Pavlovic2025-06-122025-06-122019https://doi.org/10.5114/aoms.2018.79682https://www.scopus.com/inward/record.uri?eid=2-s2.0-85072179047&doi=10.5114%2faoms.2018.79682&partnerID=40&md5=7b75f0d0c76b2e7274ae62b20d7e51c4https://remedy.med.bg.ac.rs/handle/123456789/5795Introduction: 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. Copyright © 2018 Termedia & Banach25(OH)DCYP27B1CYP2R1DBPSingle nucleotide polymorphismsVDRGenes and metabolic pathway of sarcoidosis: Identification of key players and risk modifiers