Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers
Аутори
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
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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 a...llele 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.
Кључне речи:
VDR / single nucleotide polymorphisms / DBP / CYP2R1 / CYP27B1 / 25(OH)DИзвор:
Archives of Medical Science, 2019, 15, 5, 1138-1146Издавач:
- Termedia Publishing House Ltd, Poznan
Финансирање / пројекти:
- Ретке болести: молекуларна патофизиологија, дијагностички и терапијски модалитети и социјални, етички и правни аспекти (RS-MESTD-Integrated and Interdisciplinary Research (IIR or III)-41004)
- Функционо-морфолошка и хемодинамска испитивања различитих обољења и поремећаја конвенционалним методама нуклеарне медицине и позитронском емисионом томографијом (RS-MESTD-Basic Research (BR or ON)-175018)
- Клиничко епидемиолошка истраживања најчешћих нежељених догађаја током болничког лечења (RS-MESTD-Basic Research (BR or ON)-175046)
- Значај ране дијагностике синдрома опструктивне апнеје у спавању код возача професионалаца који управљају моторним возилима (RS-MESTD-Basic Research (BR or ON)-175081)
DOI: 10.5114/aoms.2018.79682
ISSN: 1734-1922
WoS: 000484782500004
Scopus: 2-s2.0-85072179047
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 . .