Clinical laboratory
Detecting the TNF-α -308G/A Polymorphism by Quantitative PCR and its Correlation with Therapeutic Efficacy in Ankylosing Spondylitis
By Dou YL, Kong LJ, Zhao XT and 2 others.
Abstract
Background
The tumor necrosis factor-alpha (TNF-α) -308GA polymorphism (rs1800629) may affect TNF-α expression and the effectiveness of TNF-α inhibitors in autoimmune conditions such as ankylosing spondylitis (AS). For clinical use, it is very important to have fast and accurate genotyping methods. This study aimed to comprehensively evaluate a fluorescence quantitative polymerase chain reaction (PCR) method based on TaqMan minor groove binder (MGB) probe technology in detecting the TNF-α rs1800629 polymorphism and investigate the correlation between this SNP and the efficacy of TNF-α inhibitor therapy in patients with AS.
Methods
A TaqMan-MGB FQ-PCR detection system was constructed for the detection of the TNF-α single nucleotide polymorphism (SNP) (-308G>A). The limit of detection, accuracy, precision, specificity, sensitivity, and stability were assessed. A multicenter clinical trial was conducted to assess the detection system using a double-blind method involving 1,045 patients with immune diseases. The genotypes of TNF-α -308G/A from 20 patients with hyperlipidemia or jaundice were tested using the detection systems to evaluate the influence of interference. The correlation between the clinical response to TNF-α inhibitors and TNF-α -308G/A SNP was investigated using the 32 patients with ankylosing spondylitis.