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Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers
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 invest...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Termedia Publishing House
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764301/ https://www.ncbi.nlm.nih.gov/pubmed/31572458 http://dx.doi.org/10.5114/aoms.2018.79682 |
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author | Stjepanovic, Mihailo I. Mihailovic-Vucinic, Violeta Spasovski, Vesna Milin-Lazovic, Jelena Skodric-Trifunovic, Vesna Stankovic, Sanja Andjelkovic, Marina Komazec, Jovana Momcilovic, Ana Santric-Milicevic, Milena Pavlovic, Sonja |
author_facet | Stjepanovic, Mihailo I. Mihailovic-Vucinic, Violeta Spasovski, Vesna Milin-Lazovic, Jelena Skodric-Trifunovic, Vesna Stankovic, Sanja Andjelkovic, Marina Komazec, Jovana Momcilovic, Ana Santric-Milicevic, Milena Pavlovic, Sonja |
author_sort | Stjepanovic, Mihailo I. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6764301 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Termedia Publishing House |
record_format | MEDLINE/PubMed |
spelling | pubmed-67643012019-09-30 Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers Stjepanovic, Mihailo I. Mihailovic-Vucinic, Violeta Spasovski, Vesna Milin-Lazovic, Jelena Skodric-Trifunovic, Vesna Stankovic, Sanja Andjelkovic, Marina Komazec, Jovana Momcilovic, Ana Santric-Milicevic, Milena Pavlovic, Sonja Arch Med Sci Basic Research 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. Termedia Publishing House 2018-11-23 2019-09 /pmc/articles/PMC6764301/ /pubmed/31572458 http://dx.doi.org/10.5114/aoms.2018.79682 Text en Copyright: © 2018 Termedia & Banach http://creativecommons.org/licenses/by-nc-sa/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license. |
spellingShingle | Basic Research Stjepanovic, Mihailo I. Mihailovic-Vucinic, Violeta Spasovski, Vesna Milin-Lazovic, Jelena Skodric-Trifunovic, Vesna Stankovic, Sanja Andjelkovic, Marina Komazec, Jovana Momcilovic, Ana Santric-Milicevic, Milena Pavlovic, Sonja Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
title | Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
title_full | Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
title_fullStr | Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
title_full_unstemmed | Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
title_short | Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
title_sort | genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers |
topic | Basic Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764301/ https://www.ncbi.nlm.nih.gov/pubmed/31572458 http://dx.doi.org/10.5114/aoms.2018.79682 |
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