Screening of CCR2 gene in sarcoidosis with patients next generation sequence analysi̇s

Sarcoidosis is a multisystem disease of unknown cause characterized by the accumulation of mononuclear cells at disease sites resulting in granuloma formation. The disease is thought to be triggered by unknown environmental antigens in genetically predisposed hosts. In this study, we aimed to screen the CCR2 gene in patients diagnosed with sarcoidosis by next generation sequence analysis. 31 patients who were followed up with a diagnosis of sarcoidosis in the Chest Diseases Clinic of Düzce University Faculty of Medicine and 19 controls admitted for a non-sarcoidosis reason were included. A total of 50 individuals, 35 (70%) males and 15 (30%) females, were included in the present study. There were 24 (77.4%) females and 7 (22.6%) males in the patient group, while there were 11 (57.9%) females and 8 (53.3%) males in the control group (χ2=2.138; p=0.144). In our study; The Detected CCR2 (NM_001123396.4) variations in the patient and control groups were NM_001123396.4:c.1044G>A(p.Thr348=)(rs3092960) (Patient:3, Control:3), NM_001123396.4(CCR2): c.156G>T(p.Val52=)(rs3918367) (Patient:2, Control:0), NM_001123396.4(CCR2):c.190G>A(p.Val64Ile)(rs1799864) (Patient: 8, Control :6), NM_001123396.4:c.780T>C(p.Asn260=)(rs1799865) (Patient: 24, Control:8), respectively. As a result, the NM_001123396.4(CCR2):c.156G>T(p.Val52=)(rs3918367) and NM_001123396.4:c.780T>C(p.Asn260=)(rs1799865) variations were significantly higher in the patient group than the control group.(p<0.05). In order to better understand the role of these detected CCR2 variations in the etiopathogenesis of sarcoidosis, additional studies are needed, including larger series in which the CCR2 gene was sequenced by NGS.