Targeted Mass Spectrometry of a Clinically Relevant PSA Variant from Post-DRE Urines for Quantitation and Genotype Determination

对 DRE 后尿液中临床相关的 PSA 变异体进行靶向质谱定量分析和基因型测定

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作者:Joseph J Otto, Vanessa L Correll, Hampus A Engstroem, Naomi L Hitefield, Brian P Main, Brenna Albracht, Teresa Johnson-Pais, Li Fang Yang, Michael Liss, Paul C Boutros, Thomas Kislinger, Robin J Leach, Oliver J Semmes, Julius O Nyalwidhe

Conclusions and clinical relevance

The study demonstrates that MS based peptide variant quantitation in urine could be useful in determining patient genotype expression. This assay provides a tool to evaluate the utility of PSA variant (rs17632542) in parallel with current and forthcoming urine biomarker panels.

Purpose

The rs17632542 single nucleotide polymorphism (SNP)

Results

Stable-isotope labeled peptides are used in the detection and quantitation of three peptides of interest in each sample using parallel reaction monitoring (PRM). Using these data, groupings are predicted using hierarchical clustering in R. Accuracy of the predictions show 100% concordance across the 53 samples, including individuals homozygous and heterozygous for the SNP. Conclusions and clinical relevance: The study demonstrates that MS based peptide variant quantitation in urine could be useful in determining patient genotype expression. This assay provides a tool to evaluate the utility of PSA variant (rs17632542) in parallel with current and forthcoming urine biomarker panels.

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