Association of mannose-binding lectin 2 (MBL2) and suppressor of cytokine signaling-1 (SOCS1) gene variants in children with febrile neutropenia

• Published in: Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2022-05, Vol.28 (5), p.657-662
• Main Authors: Uysalol, Ezgi Pasli, Uysalol, Metin, Pehlivan, Mustafa, Oyaci, Yasemin, Pehlivan, Sacide, Serin, Istemi
• Format: Article
• Language: English
• Subjects: Case-Control Studies; Child; Febrile neutropenia; Febrile Neutropenia - etiology; Febrile Neutropenia - genetics; Genetic Predisposition to Disease; Genotype; Humans; Mannose-Binding Lectin - genetics; Mannose-binding lectin 2 (MBL2); Neoplasms - complications; Prognosis; Suppressor of Cytokine Signaling 1 Protein - genetics; Suppressor of cytokine signaling-1 (SOCS1)
• ISSN: 1341-321X; 1437-7780
• DOI: 10.1016/j.jiac.2022.01.012

Febrile neutropenia (FEN) was reported in patients with solid malignancies at a rate of 5–10% and in patients with hematological malignancies at a rate of 20–25%. In our study, we aimed to investigate the effects of mannose-binding lectin 2 (MBL2) (rs1800450) and suppressor of cytokine signaling-1 (SOCS1) (rs33989964) gene variants on patients with FEN. A total of 123 patients who applied to pediatric emergency department between December 2019–12/2020 included in the study. Thirteen patients were excluded from the study due to the inability to obtain DNA. Demographic-clinical features at initial diagnosis and genotype distributions were recorded. The control group consisted of volunteers with the same ethnicity, age and gender, no active infection, and no consanguinity. CA/CA genotype of SOCS1 was found to be significantly higher in the healthy control group (p = 0.028). AB/BB genotype of MBL2 was significantly higher in FEN patients with a MASCC score of high risk, AA genotype was found to be higher in patients with low risk (p = 0.001). While the rate of microbiologically documented infection (MDI) was significantly lower in patients with the AA genotype of MBL2, it was significantly higher in patients with AA/BB genotypes (p = 0.025). MDI rate in patients with the del/del genotype of SOCS1 was found to be significantly lower than in patients with CA/CA + CA/del genotypes (p = 0.026). In this study, it was revealed that low expression-related MBL2 genotypes were riskier for FEN and also, gene variants associated with high SOCS1 transcription were both protective against FEN and increased the rate of culture-negativity.