Sarkoidoz tanılı hastalarda CRR2 geninin yeni nesildizi analizi ile taranması
Küçük Resim Yok
Tarih
2023
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Düzce Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Sarkoidoz, granülom oluşumuyla sonuçlanan hastalık bölgelerinde mononükleer hücrelerin birikmesi ile karakterize edilen, nedeni bilinmeyen bir multisistem hastalığıdır. Hastalığın, genetik olarak yatkın konakçılarda bilinmeyen çevresel antijenler tarafından tetiklendiği düşünülmektedir. Biz bu çalışmada sarkoidoz tanılı hastalarda CCR2 geninin yeni nesil dizi analizi(YND) ile taranmasını amaçladık. Düzce Üniversitesi Tıp Fakültesi Göğüs Hastalıkları Kliniği'nde sarkoidoz tanısı ile takip edilen 31 hasta ile sarkoidoz dışı bir nedenle başvurmuş 19 kontrol dahil edilmiştir. Mevcut çalışmamıza 35'si (%70) erkek, 15'i (%30) bayan olmak üzere toplam 50 birey dahil edilmiştir. Hasta grubunda 24(%77,4) kadın ve 7(%22,6) erkek varken, kontrol grubunda 11(%57,9) kadın ve 8(%53,3) erkek vardı (?2=2,138; p=0,144). Çalışmamızda; CCR2 (NM_001123396.4) geninde hasta ve kontrol grubunda tespit edilen varyasyonlar sırasıyla NM_001123396.4:c.1044G>A(p.Thr348=)(rs3092960) (Hasta:3, Kontrol:3), NM_001123396.4(CCR2):c.156G>T(p.Val52=)(rs3918367) (Hasta:2, Kontrol:0), NM_001123396.4(CCR2):c.190G>A(p.Val64Ile)(rs1799864) (Hasta: 8, Kontrol:6), NM_001123396.4:c.780T>C(p.Asn260=)(rs1799865) (Hasta: 24, Kontrol:8) olarak bulundu. Sonuç olarak NM_001123396.4(CCR2):c.156G>T(p.Val52=)(rs3918367) ve NM_001123396.4:c.780T>C(p.Asn260=)(rs1799865) varyasyonları hasta grubunda kontrol grubundan anlamlı derecede yüksekti (p<0,05). Tespit edilen bu CCR2 varyasyonların sarkoidozun etyopatogenezisindeki rolünün daha iyi anlaşılabilmesi için CCR2 geninin YND ile tarandığı gemiş serileri içeren ilave çalışmalara ihtiyaç vardır.
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 (?2=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.
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 (?2=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.
Açıklama
Anahtar Kelimeler
Genetik, Genetics
