Anatol J Med . 2023; 33(1): 45-49 | DOI: 10.4274/terh.galenos.2021.55899
The Investigation Frequency of JAK2 Gene Mutation in Glomerulonephritis
Tuba Demirci Yıldırım1, Utku Erdem Soyaltın2, Altuğ Koç3, Serkan Yıldız4, Mehmet Tanrısev5, Yaşar Bekir Kutbay6, Ferhat Ekinci7, Süleyman Yıldırım8, Harun Akar9, Cengiz Ceylan91Dokuz Eylül University Faculty of Medicine, Department of Rheumatology, İzmir, Turkey
2University of Health Sciences Turkey, Başakşehir Çam and Sakura City Hospital, Clinic of Endocrinology, İstanbul, Turkey
3Dokuz Eylül University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey
4Dokuz Eylül University Faculty of Medicine, Department of Nephrology, İzmir, Turkey
5University of Health Sciences Turkey, İzmir Tepecik Education and Research Hospital, Clinic of Nephrology, İzmir, Turkey
6University of Health Sciences Turkey, İzmir Tepecik Education and Research Hospital, Clinic of Genetic Diagnostic Center, İzmir, Turkey
7Manisa Celal Bayar University Faculty of Medicine, Department of Medical Oncology, Manisa, Turkey
8University of Health Sciences Turkey, Dr. Suat Seren Chest Diseases and Thoracic Surgery Training and Research Hospital, Clinic of Intensive Care Unit, İzmir, Turkey
9University of Health Sciences Turkey, İzmir Tepecik Education and Research Hospital, Clinic of Internal Medicine, İzmir, Turkey
Objective: Glomerulonephritis (GN) a heterogeneous group disease and the pathophysiology of GN is not understood yet. The aim of the study, the investigation frequency of Janus kinase (JAK)2 gene mutation in GN.
Methods: The study was conducted in University of Health Sciences Turkey, İzmir Tepecik Education and Research Hospital, Nephrology Clinic, and Dokuz Eylül University Faculty of Medicine Nephrology Clinic, between May 2015 and October 2015. Sixty-seven patients with GN and 100 healthy participants as a control group were included in the study. JAK2 gene mutation was investigated on peripheral venous blood.
Results: Thirty-three (49%) of the participants in the GN group were male and the mean age was 45.8±12.4 years. Thirty-seven (37%) of the participants in the control group were male and the mean age was 40.1±14.7 years. There were no JAK2 V617F mutations in both the study and control groups.
Conclusion: In our study, no direct relationship was found between the JAK2 mutation and GN. To evaluate the relationship between the JAK-signal transducers and activators of transcription (STAT) pathway and GN, further studies are needed, especially at the tissue level.
Keywords: Glomerulonephritis, JAK2 gene mutation, JAK-STAT pathway
Corresponding Author: Tuba Demirci Yıldırım, Türkiye
Manuscript Language: English