rs7181866

mixedMag 3.2

This is a intron variant variant in the GABPB1 gene.

Key Literature Trait Associations

Endurance Trainability / VO2max Response

GABPB1 encodes the beta-1 subunit of GA-binding protein (NRF-2, nuclear respiratory factor 2), a transcription factor that activates genes for mitochondrial biogenesis and oxidative phosphorylation. The G allele is associated with greater VO₂max improvements after endurance training. A study of Polish rowers found the AG genotype frequency significantly higher in elite rowers (10.9%) vs controls (2.3%), and the G allele frequency was 5.5% vs 1.2% in controls (p=0.014). The AG genotype may induce greater gene transcription and higher protein mRNA expression.

Eynon N et al. “NRF2 intron 3 A/G polymorphism is associated with endurance athletes' status.” Journal of Applied Physiology (bethesda, Md. : 1985) (2009)

Allele G

OR —

p 8.0e-4

N 395

Candidate gene study

Israeli

Maciejewska-Karłowska A et al. “The GABPB1 gene A/G polymorphism in Polish rowers.” Journal of Human Kinetics 31(2012):115-120 (2012)

Allele G

OR —

p 1.0e-3

Candidate gene study

He Z et al. “NRF2 genotype improves endurance capacity in response to training.” International Journal of Sports Medicine (2007)

Allele G

OR —

p 6.0e-3

Candidate gene study

East Asian (Chinese)

Elite athletic status

The G allele of rs7181866 has been associated with elite athletic status across multiple independent cohorts and sports disciplines. In a large Brazilian study (n=1,129), the G allele was overrepresented in combat-sport athletes, particularly world-class athletes (p≤0.0002). Polish rowers also showed significantly higher G allele frequency than sedentary controls (5.50% vs 1.17%; p=0.014). A systematic review of 14,313 participants identified rs7181866 among key polymorphisms distinguishing elite combat athletes from controls. A Turkish study of skiers from a genetically homogeneous tribe found significant genotype and allele distribution differences (p<0.001). Evidence converges across European, South American, and Middle Eastern cohorts.

Guilherme JPLF et al. “Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene.” Physiological Genomics (2021)

Allele G

OR —

p 2.0e-4

N 1,129

Preliminary work

Brazilian

Youn BY et al. “Genetic basis of elite combat sports athletes: a systematic review.” Biology of Sport (2021)

Allele G

OR —

p —

N 14,313

Preliminary work

multi-ancestry

Kaynar Ö et al. “Genetic biomarkers of skiers from the Oğlağo Tribe in Muş Province, Turkey: An analysis of ACTN3, VEGF-A, and GABPB1 polymorphisms.” Medicine (2025)

Allele G

OR —

p 1.0e-3

N 149

Candidate gene study

Turkish

Maciejewska-Karłowska A et al. “The GABPB1 gene A/G polymorphism in Polish rowers.” Journal of Human Kinetics 31(2012):115-120 (2012)

Allele G

OR —

p 1.2e-2

N 55

Candidate gene study

European (Polish)

Obesity risk in type 2 diabetes mellitus

A candidate-gene study in 302 South Indian subjects found the G allele of rs7181866 significantly associated with obesity risk in individuals with type 2 diabetes mellitus. The GG genotype correlated with elevated pro-inflammatory adipokines (TNF-α, leptin, IL-6) and decreased anti-inflammatory adiponectin, suggesting a metabolic role for GABPB1 in adipose tissue regulation. This finding contrasts with the generally beneficial athletic associations of the G allele, possibly reflecting pleiotropic effects in sedentary versus active contexts. Evidence is limited to a single small study in South Asian ancestry and requires replication.

Umapathy D et al. “Association of SNP rs7181866 in the nuclear respiratory factor-2 beta subunit encoding GABPB1 gene with obesity and type-2 diabetes mellitus in South Indian population.” International Journal of Biological Macromolecules (2019)

Allele G

OR —

p —

N 302

Candidate gene study

South Asian (Indian)

Gene information from NCBI Gene. Variant classifications from ClinVar.

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