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

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

SUBMITTER: Stjepanovic MI 

PROVIDER: S-EPMC6764301 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature