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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The Evolution of Precision Anti-Doping From UGT2B17 Polymorphism Insights to Integrated Detection Frameworks
Jiahui Cheng1, Zhongquan Li1, Tingyuan Zheng1
1Shanghai Anti-Doping Laboratory, Shanghai University of Sport, Shanghai, China.
Drug Testing and Analysis
|May 23, 2026
Summary
Genetic variations impact doping tests for anabolic-androgenic steroid abuse. New strategies using genotyping and alternative markers improve detection accuracy for athletes, especially those with specific UGT2B17 gene variations.
Area of Science:
- Sports Science
- Genetics
- Biochemistry
Background:
- The urinary testosterone/epitestosterone (T/E) ratio is a standard method for detecting anabolic-androgenic steroid (AAS) abuse.
- Genetic polymorphisms, specifically UGT2B17 gene copy number variations, significantly affect the T/E ratio.
- Ethnic variations in UGT2B17 genotype distribution can lead to misclassification and missed doping cases.
Purpose of the Study:
- To address the limitations of the conventional T/E ratio in doping control due to genetic polymorphisms.
- To propose advanced strategies for more accurate and reliable detection of AAS abuse.
- To explore the integration of genetic data and novel biomarkers into anti-doping frameworks.
Main Methods:
- Review of current research on UGT2B17 gene polymorphisms and their impact on steroid metabolism.
- Evaluation of alternative urinary markers (androsterone/etiocholanolone ratio, 5α-diol-3-glucuronide).
- Assessment of blood-based testing methods, including dried blood spots for steroid ester detection.
- Development of a tiered decision-making framework incorporating genotype, marker selection, multiomics, and machine learning.
Main Results:
- Individuals with the UGT2B17 del/del genotype are at higher risk of false-negative results with conventional T/E ratio testing.
- Alternative urinary markers and blood-based methods show promise in overcoming UGT2B17-related interferences.
- A multi-faceted approach combining genetic information with advanced analytical techniques can enhance doping detection sensitivity and specificity.
Conclusions:
- Genetic polymorphisms present a significant challenge to conventional doping control methods.
- Integrating genotyping into the athlete biological passport and utilizing alternative biomarkers are crucial for accurate doping detection.
- Future anti-doping strategies should embrace multiomics and machine learning for robust detection of AAS abuse, accounting for individual genetic variability.
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