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 investigate the association between single nucleotide polymorphisms (SNPs) in (rs10741657), (rs10877012), (rs7041; rs4588), and (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 rs10877012 have 10 times lower odds of suffering from sarcoidosis. Moreover, 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 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.