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. 2019 Sep;15(5):1138-1146.
doi: 10.5114/aoms.2018.79682. Epub 2018 Nov 23.

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

Mihailo I Stjepanovic  1   2 , Violeta Mihailovic-Vucinic  1   2 , Vesna Spasovski  3 , Jelena Milin-Lazovic  2 , Vesna Skodric-Trifunovic  1   2 , Sanja Stankovic  4 , Marina Andjelkovic  3 , Jovana Komazec  3 , Ana Momcilovic  3 , Milena Santric-Milicevic  2   5 , Sonja Pavlovic  3
Affiliations

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

Mihailo I Stjepanovic et al. Arch Med Sci. 2019 Sep.

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.

Keywords: 25(OH)D; CYP27B1; CYP2R1; DBP; VDR; single nucleotide polymorphisms.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Distribution of CC vs. CA + AA genotypes of CYP27B1 rs10877012 among sarcoidosis patients and controls
Figure 2
Figure 2
Distribution of AA vs. CA + CC genotypes of DBP rs4588 among sarcoidosis patients and controls
Figure 3
Figure 3
Comparison of 25(OH)D levels between carriers of CC vs. CA + AA genotypes of DBP rs4588. The line inside the box represents the median value, and the box represents the first and third quartile of data
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