Key result
FADS2 T allele linked to ~137% greater risk of skeletal muscle loss in AYA cancer patients.
Why the study?
Skeletal muscle loss occurs during early anthracycline treatment in adolescent and young adult cancer patients, and identifying those at greatest risk is critical for prevention.
Does the presence of specific genetic variants predict skeletal muscle loss in adolescent and young adult cancer patients treated with anthracyclines?
Cohort (n=138)
Does the presence of specific genetic variants predict skeletal muscle loss in adolescent and young adult cancer patients treated with anthracyclines?
Genetic variants in the FADS2 gene are associated with skeletal muscle density reduction in adolescent and young adult cancer patients post-anthracycline treatment, suggesting a potential for risk assessment.
Answers are grounded in this paper and cite their sources.
Identifies potential genetic susceptibility to anthracycline-induced muscle loss; leaves open whether these markers can.
Purpose: Skeletal muscle (SM) loss occurs during early anthracycline treatment in adolescent and young adult (AYA) cancer patients. Identifying those at greatest risk is critical for prevention. This study aimed to determine if genetic variants previously associated with SM loss in the general population are also associated with SM loss in AYA cancer patients receiving anthracycline chemotherapy. Methods: SM change was quantified via computed tomography for 138 AYA cancer patients. The genome-wide association studies (GWAS) catalog was queried to identify candidate variants associated with SM index (SMI) or sarcopenia. Of the 18 GWAS-implicated variants, genotyping data were available in the study population for nine. Multivariable logistic regression was performed for each variant and risk of SM loss at the end of treatment and 1-year follow-up with adjustment for anthracycline dose, radiation exposure, diagnosis, sex, age, and follow-up time. Results: The T allele of rs97384 (chr11:61624181) located in the fatty acid desaturase 2 ( FADS2 ) gene was associated with risk of SM loss with a significant association for SM density (SMD) at follow-up (odds ratio: 2.37, 95% confidence interval: 1.27–4.45, p = 0.007). This variant was also borderline significant ( p < 0.10) for SMD at baseline and SMI at follow-up. Integration of other variants within the FADS2 region identified several loci with more significant associations with SM loss in our patient population than that conferred by rs97384. Conclusion: Genetic variants previously associated with SM loss in the general population were significantly associated with SMD reduction post-anthracycline treatment in AYAs. Thus, providing the possibility of SM loss risk assessment in this high-risk patient population.
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Wooten et al. (2026) conducted a cohort in Adolescent and young adult (AYA) cancer patients treated with anthracyclines (n=138). T allele of rs97384 in the FADS2 gene was evaluated on Skeletal muscle density (SMD) reduction at follow-up (OR 2.37, 95% CI 1.27-4.45, p=0.007). The T allele of rs97384 in the FADS2 gene was significantly associated with an increased risk of skeletal muscle density reduction at follow-up in AYA cancer patients (OR 2.37; 95% CI 1.27-4.45; p=0.007).
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