24 May 2018 : Clinical Research
Med Sci Monit 2018; 24: CLR3442-3449
BACKGROUND: Spinal tuberculosis (STB) is the main cause of bone and joint tuberculosis. This study aimed to screen and analyze the susceptibility genes for STB using whole-exome sequencing (WES).
MATERIAL AND METHODS: All exon regions of peripheral blood DNA from 6 STB patients were captured and sequenced using WES and the sequencing data were analyzed by modern bioinformatics methods to identify disease-causing mutations. Sanger sequencing was then used to validate the mutation sites in normal controls (207) and STB patients (193). The mRNA expression of the mutant gene and the serum levels of IL-6 and TNF-α were detected using qPCR or ELISA assay, respectively.
RESULTS: A nonsynonymous single-nucleotide polymorphism (SNP) in the gene HLA-DQA1 (rs796778515, c.592delCinsG, CAG to GAG, p.Q198E) was identified and further validated by Sanger sequencing. The percentage of the 3 genotypes C/C, C/G and G/G in STB patients and normal controls were 37.3%, 32.1%, and 30.6% and 47.8%, 33.8%, and 18.4%, respectively. Furthermore, the C>G mutation was significantly associated with the occurrence of STB. In addition, the levels of HLA-DQA1 mRNA were significantly lower in blood cells from STB patients compared with normal controls, while the serum levels of IL-6 and TNF-α were significantly higher.
CONCLUSIONS: The C>G mutation in the HLA-DQA1 gene was associated with the occurrence of STB. This variation may result in the decreased level of HLA-DQA1 mRNA and increased serum levels of IL-6 and TNF-α, which finally led the STB susceptibility.
Keywords: High-Throughput Nucleotide Sequencing
This Week Editorial
02 August 2021 : EditorialEditorial: The National COVID Cohort Collaborative Consortium Combines Population Data with Machine Learning to Evaluate and Predict Risk Factors for the Severity of COVID-19
Med Sci Monit 2021; 27:e934171
30 July 2021 : Clinical ResearchRural and Female Patients with Old Myocardial Infarction Lacked Knowledge and Preventive Measures During th...
Med Sci Monit In Press :: DOI: 10.12659/MSM.928512
16 July 2021 : Review articleSilent Hypoxemia in Patients with COVID-19 Pneumonia: A Review
Med Sci Monit In Press :: DOI: 10.12659/MSM.930776
09 July 2021 : Database AnalysisA Simple Clinical Prediction Tool for COVID-19 in Primary Care with Epidemiology: Temperature-Leukocytes-CT...
Med Sci Monit In Press :: DOI: 10.12659/MSM.931467
03 Aug 2021 : Clinical ResearchComparison of Outcomes Following TiRobot-Assisted Sacroiliac Screw Fixation with Bone Grafting and Traditio...
Med Sci Monit In Press :: DOI: 10.12659/MSM.932724
02 Aug 2021 : Database AnalysisRNA N6-Methyladenosine Patterns in Hepatocellular Carcinoma Reveal a Distinct Immune Infiltration Landscape...
Med Sci Monit In Press :: DOI: 10.12659/MSM.930994
02 Aug 2021 : Clinical ResearchVitamin D Receptor Is a Sepsis-Susceptibility Gene in Chinese Children
Med Sci Monit In Press :: DOI: 10.12659/MSM.932518
20 Mar 2020 : Clinical ResearchSocial Capital and Sleep Quality in Individuals Who Self-Isolated for 14 Days During the Coronavirus Diseas...
Med Sci Monit 2020; 26:e923921
15 Apr 2020 : Clinical ResearchPsychological Impact and Coping Strategies of Frontline Medical Staff in Hunan Between January and March 20...
Med Sci Monit 2020; 26:e924171
05 May 2020 : Review articleAn Evidence Based Perspective on mRNA-SARS-CoV-2 Vaccine Development
Med Sci Monit 2020; 26:e924700