Association of TGF-β3 and ANXA11 with pulmonary sarcoidosis in Greek population

Background In sarcoidosis, the direction and intensity of immunological reactions involved in disease pathophysiology is affected by variation in the genes coding for effector and regulatory molecules with immune functions. This study, therefore, investigates polymorphic variants in genes involved in inflammation, immune reactions, and granuloma formation in context of their plausible association with sarcoidosis, with specific focus on Greek population. Methods A total of 18 single-nucleotide polymorphisms (SNPs) were genotyped in Greek patients with pulmonary sarcoidosis (n = 103) and in healthy Greek control subjects (n = 100) using multiplexed MassARRAY (MassARRAY (R)) iPLEX assay based on MALDI-TOF mass spectrometry. ResultsTGF-beta 3 rs3917200*G variant was associated with sarcoidosis (OR: 3.04 [95% CI: 1.98-4.69],p = 2.76*10(-7)). Further,ANXA11rs1049550*A variant was associated with sarcoidosis (OR: 0.59 [0.39-0.89],p = 0.01). Conclusions This first study of genetic variation of immune-related genes in Greek patients with sarcoidosis brings to attention a novel disease 'susceptibility' factor:TGF-beta 3rs3917200*G allele. It also confirms previously reported 'protective' association between sarcoidosis and functional variantANXA11rs1049550*A. Further work is required to validate these findings and to expand investigation of their plausible relationship with clinical course of the disease.