Genome-Wide Association Study of Genetic Variants Associated with Serum Albumin Levels in Chinese Winter Sports Athletes

This study aimed to explore genetic variants associated with serum albumin (ALB) levels in Chinese winter sports athletes using genome-wide association analysis (GWAS) and to investigate potential regulatory mechanisms using bioinformatics annotation. A total of 382 Chinese winter sports athletes were recruited. ALB levels were compared between elite and non-elite athletes. GWAS was conducted using PLINK v1.9, with ALB as the phenotype and sex, age, and principal components as covariates. Associated SNPs were annotated using GTEx and SNPnexus. No significant differences were observed in ALB levels between elite and non-elite male or female athletes, and ALB levels in all groups followed a normal distribution. We identified 113 SNPs reaching a suggestive significance threshold (p < 1 × 10−5), with per-variant variance explained estimates (7.11–11.76%) reflecting model fit within this cohort. A stepwise regression model highlighted nine candidate SNPs that together explained 51.1% of ALB variance in the study sample. Functional annotation suggested that several variants show eQTL or sQTL signals in tissues relevant to ALB biology (e.g., liver and kidney), and pathway enrichment analyses implicated amino acid and hormone metabolism. Overall, these findings are hypothesis-generating; independent replication in additional and ancestry-matched cohorts (and follow-up functional studies) is required to confirm the robustness of the associations and clarify causal mechanisms.