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

**Authors:** Tao Mei, Yanchun Li, Dapeng Bao, Xiaolin Yang, Zihong He

PMC · DOI: 10.3390/biology15040350 · Biology · 2026-02-17

## TL;DR

This study finds genetic variants linked to blood albumin levels in Chinese winter athletes, which could help personalize training and health monitoring.

## Contribution

The study identifies genetic variants associated with albumin levels in a specific athlete population and explores their biological mechanisms.

## Key findings

- 113 SNPs were found to be associated with serum albumin levels in Chinese winter sports athletes.
- Nine candidate SNPs explained 51.1% of the variance in albumin levels in the study sample.
- Functional analysis linked the variants to tissues like the liver and kidney and to metabolism-related pathways.

## Abstract

Blood albumin is an important protein that reflects nutrition, metabolism, and recovery status in athletes and is widely used in training monitoring. However, albumin levels can vary greatly between individuals, and the reasons for these differences are not fully understood. This study investigated whether genetic differences contribute to variation in blood albumin levels in Chinese winter sports athletes. We analyzed blood samples and genetic data from athletes preparing for the Winter Olympic Games. Albumin levels showed clear individual differences but did not differ between higher- and lower-level athletes. We identified multiple genetic variants that were associated with albumin levels, with several key variants explaining a large proportion of the individual differences. Further analysis suggested that these genetic variants may influence albumin levels through organs such as the liver and kidneys and through pathways related to protein and hormone metabolism. These findings improve our understanding of why athletes respond differently to training and recovery and suggest that genetic information may help interpret blood test results more accurately. This work may contribute to more individualized training monitoring and health management strategies for 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.

## Linked entities

- **Proteins:** LOC100189571 (uncharacterized LOC100189571)

## Full-text entities

- **Genes:** Alb (albumin) [NCBI Gene 11657] {aka Alb-1, Alb1, BCL001, BCL002, BPL001}, ALB (albumin) [NCBI Gene 213] {aka FDAHT, HSA, PRO0883, PRO0903, PRO1341}, Runx2 (runt related transcription factor 2) [NCBI Gene 12393] {aka AML3, CBF-alpha-1, Cbf, Cbfa-1, Cbfa1, LS3}, Txnrd1 (thioredoxin reductase 1) [NCBI Gene 50493] {aka TR, TR1, TrxR1}, Slc4a4 (solute carrier family 4 (anion exchanger), member 4) [NCBI Gene 54403] {aka NBC, NBC1}, Col6a1 (collagen, type VI, alpha 1) [NCBI Gene 12833] {aka Col6a-1}, Spc24 (SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)) [NCBI Gene 67629] {aka 2410030K01Rik, Spbc24}, Aldh4a1 (aldehyde dehydrogenase 4 family, member A1) [NCBI Gene 212647] {aka A930035F14Rik, Ahd-1, Ahd1, Aldh4, Aldh5a1, E330022C09}, COL6A2 (collagen type VI alpha 2 chain) [NCBI Gene 1292] {aka BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B}, Fignl1 (fidgetin-like 1) [NCBI Gene 60530], TNFRSF13B (TNF receptor superfamily member 13B) [NCBI Gene 23495] {aka CD267, CVID, CVID2, IGAD2, RYZN, TACI}, COL6A3 (collagen type VI alpha 3 chain) [NCBI Gene 1293] {aka BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C}, Nfe2l2 (nuclear factor, erythroid derived 2, like 2) [NCBI Gene 18024] {aka Nrf2}, Nqo1 (NAD(P)H dehydrogenase, quinone 1) [NCBI Gene 18104] {aka Dia4, Dtd, Nmo-1, Nmo1, Nmor1, Ox-1}, Aox1 (aldehyde oxidase 1) [NCBI Gene 11761] {aka Ao, Aox-1, Aox-2, Aox2, Moro, Ro}, Ddc (dopa decarboxylase) [NCBI Gene 13195] {aka Aadc}, GCKR (glucokinase regulator) [NCBI Gene 2646] {aka FGQTL5, GKRP}, FADS1 (fatty acid desaturase 1) [NCBI Gene 3992] {aka D5D, FADS6, FADSD5, LLCDL1, TU12}, PTH (parathyroid hormone) [NCBI Gene 5741] {aka FIH1, PTH1}
- **Diseases:** infection (MESH:D007239), renal tubular acidosis (MESH:D000141), hypertension (MESH:D006973), SLC4A4 deficiency (MESH:D007153), non-insulin-dependent (MESH:D003924), hepatic or renal diseases (MESH:D007674), liver fibrosis (MESH:D008103), chronic liver or kidney disease (MESH:D051436), edema (MESH:D004487), injuries (MESH:D014947), inflammatory (MESH:D007249), functional impairment of the liver (MESH:D008107), renal tubular dysfunction (MESH:D005198), fever (MESH:D005334), acute illness (MESH:D000208), analbuminemia (MESH:D034141)
- **Chemicals:** catecholamine (MESH:D002395), amine (MESH:D000588), fatty acids (MESH:D005227), amino (-), melatonin (MESH:D008550), potassium (MESH:D011188), sodium (MESH:D012964), dopamine (MESH:D004298), lead (MESH:D007854), alcohol (MESH:D000438), serotonin (MESH:D012701), calcium (MESH:D002118), lipids (MESH:D008055), urea nitrogen (MESH:C530477), agarose (MESH:D012685), proline (MESH:D011392), phosphorus (MESH:D010758), glyoxylate (MESH:C031150), glycine (MESH:D005998), lithium (MESH:D008094), testosterone (MESH:D013739)
- **Species:** Homo sapiens (human, species) [taxon 9606], Mus musculus (house mouse, species) [taxon 10090]
- **Mutations:** rs2776407, rs4561508, rs174548, rs13383448, rs74563907, rs114521211, rs10972486, rs58464969, rs7365362, rs112634735, rs2886185, rs4077561, rs117523171, rs10932273, rs2894536, rs2850175, rs9587839, rs11893278, rs2850173, rs79061450, Rs2277813, Rs2876826, rs13425714, rs4985726, rs1196352653, rs6941748, rs2045007, rs10932275, rs1260326, rs9254

## Full text

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## Figures

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## References

40 references — full list in the complete paper: https://tomesphere.com/paper/PMC12938714/full.md

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Source: https://tomesphere.com/paper/PMC12938714