Work

Replication of the GWAS-Identified GALNT13 rs10196189 Polymorphism in Relation to Speed–Power Elite Active Athlete Status and Multidimensional Phenotypic Differences in Chinese Han Males: A Pilot Study

Year: 2025

Type: article

Abstract: Background/Objectives: Previous multi-ethnic genome-wide association studies (GWAS) have identified the GALNT13 rs10196189 polymorphism as a potential genetic marker linked to sprint–power performance. However, its relevance in East Asian populations, particularly the Han Chinese, remains untested. This study aimed to replicate the association of rs10196189 with elite sprint–power athlete status in Han Chinese males and examine its potential influence on physical performance traits and tissue-specific gene regulation. Methods: A total of 188 healthy Han Chinese males (49 elite sprint–power athletes and 139 non-athletic controls) were genotyped using the TaqMan assay. Assessments included strength, sprint, jump, anaerobic power, DXA-derived body composition, and muscle ultrasound. Logistic regression and ROC analyses evaluated the predictive value of rs10196189. Linear regression models adjusted for age and BMI tested genotype–phenotype associations. Tissue expression and functional networks were analyzed using GTEx and HumanBase databases. Results: The G allele frequency was significantly higher in athletes (12.2%) than in controls (5.4%, p = 0.042). Dominant and additive models effectively predicted athlete status (OR = 2.53–2.58, p < 0.05). Although most traits showed no significant associations post-correction, medial gastrocnemius thickness showed a nominal association (β = 0.371, p = 0.011). Functional analyses revealed high GALNT13 expression in brain tissue and co-expression networks enriched in synaptic signaling and glycosylation pathways. Conclusions: This is the first study to validate the association of GALNT13 rs10196189 with elite athletic status in Han Chinese males. Findings provide novel population-specific evidence and propose tissue-specific glycosylation and neural mechanisms as pathways linking this variant to sprint–power phenotypes.

Source: Genes

DOI: 10.3390/genes16080983