The Marburg I (MRI) single nucleotide polymorphism (SNP) of the factor VII-activating protease (FSAP) gene has been associated with thrombophilia, thromboembolism, atherosclerosis, and the incidence and progression of carotid stenosis. At present, MRI SNP testing is mainly performed using costly nucleic acid analysis. to assess the FSAP genotype.

The authors have developed an ELISA using antibodies specific for the FSAP Marburg I variant, which accurately detects the Marburg I SNP.

ELISA results were correlated with FSAP genotypes from 523 blood donors measured using PCR. Diagnostic sensitivity and specificity of the assay for determination of the genotype were 100% (95% confidence interval wCIx: 93.36–100) and 99.79% (95% CI: 98.80–99.96), respectively.

This ELISA will significantly simplify FSAP Marburg I testing, particularly in large cohorts.

Title:
Qualitative detection of the Marburg I alloenzyme of factor VII-activating protease by an immunoassay and its comparison to PCR testing

Authors and Source:
Schwartz H et al. Clin Chem Lab Med 2010;48(12):1745–1749