Analysis of CCR2 gene variants in patients with sarcoidosis using targeted next-generation sequencing: a case-control study.

BACKGROUND

Sarcoidosis is a systemic granulomatous disease of unknown etiology. Genetic susceptibility and environmental factors are thought to play a role in the development of the disease. In this study, we aimed to investigate CCR2 gene variants in patients diagnosed with sarcoidosis using next-generation sequencing (NGS).

METHODS

A total of 50 individuals were included in the study, consisting of 31 patients followed with a diagnosis of sarcoidosis in the Department of Chest Diseases at Düzce University Faculty of Medicine and 19 controls who presented for reasons other than sarcoidosis. DNA was isolated from peripheral blood samples obtained from the participants, and CCR2 (NM_001123396.4) gene variants were analyzed using targeted next-generation sequencing.

RESULTS

In the study, NM_001123396.4:c.1044G>A (p.Thr348=) (rs3092960), NM_001123396.4:c.156G>T (p.Val52=) (rs3918367), NM_001123396.4:c.190G>A (p.Val64Ile) (rs1799864), and NM_001123396.4:c.780T>C (p.Asn260=) (rs1799865) variants were detected in the CCR2 gene. The statistical significance mainly resulted from the higher frequency of the NM_001123396.4:c.780T>C (p.Asn260=) (rs1799865) variant in the sarcoidosis group compared with the control group (p<0.05). Although the NM_001123396.4:c.156G>T (p.Val52=) (rs3918367) variant was detected only in the patient group, a reliable statistical inference could not be made due to the small number of cases.

CONCLUSIONS

These findings suggest that CCR2 gene variants may be associated with genetic susceptibility in the development of sarcoidosis. Further studies including larger patient series are needed to better understand the role of CCR2 polymorphisms in the etiopathogenesis of sarcoidosis.