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ASPSCR1 rs8074498: Sleep Quality and Genetic Insights

rs8074498
Trait
Limited evidenceGene: ASPSCR1

The genetic variant rs8074498 is a missense single-nucleotide polymorphism located within the ASPSCR1 gene on human chromosome 17. Large-scale genome-wide association research has highlighted this variant as a functional lead locus correlated with multidimensional sleep health scores and sleep quality. While it provides intriguing clues connecting sleep architecture to cellular energy regulation, its clinical effect sizes are small and evidence remains limited.

What each genotype means

A/ALower attention

Baseline sleep health profile

This genotype represents the more common variant at this location in the ASPSCR1 gene. Research indicates this variant is associated with composite sleep health scores, though the clinical significance of this specific genotype remains limited and is not a diagnostic indicator of sleep disorders.

This is the most common genotype, carried by the majority of individuals of European ancestry.

A/TModerate attention

Varied sleep health profile

Carrying one copy of the T allele at this position in the ASPSCR1 gene has been identified in large-scale studies as a functional lead locus associated with variations in composite sleep health scores. Because this association is based on statistical population trends, it does not predict individual sleep quality or health outcomes.

This heterozygous genotype is found in a significant portion of the population, consistent with the reported minor allele frequency of approximately 15-25% in European ancestries.

T/TModerate attention

Distinct sleep health profile

This genotype involves two copies of the T allele, which is a missense variant in the ASPSCR1 gene, a regulator of glucose transport. While this variant is statistically linked to composite sleep health scores in research, the evidence is limited and does not imply a specific medical condition or sleep disorder.

This homozygous genotype is the least common of the three, occurring at a frequency consistent with the minor allele frequency observed in European populations.

Genetic Architecture and Variant Location

The single-nucleotide polymorphism rs8074498 is positioned within an exon of the ASPSCR1 gene on chromosome 17. As a missense variant, it results in an amino acid substitution in the encoded protein sequence. Because coding changes can modify protein stability, binding affinity, or post-translational modifications, researchers consider rs8074498 a functional candidate rather than a passive marker. Modern genomic datasets, such as the [NCBI dbSNP database](https://www.ncbi.nlm.nih.gov/snp/rs8074498), track this variation across thousands of sequenced individuals to catalogue its exact molecular position and allele diversity. Rather than representing a catastrophic disruption or pathogenic mutation, rs8074498 reflects normal human biological diversity that exerts subtle quantitative shifts on physiological systems.

Biological Function of the ASPSCR1 Gene

The ASPSCR1 gene (ASPSCR1 tether for SLC2A4, UBX domain containing) encodes a protein commonly known as TUG. This protein plays an established role in regulating the intracellular trafficking and sequestration of the glucose transporter GLUT4. In response to insulin signaling, TUG facilitates the translocation of GLUT4 to the cell membrane to facilitate glucose uptake. Detailed entries in the [NCBI Gene database](https://www.ncbi.nlm.nih.gov/gene/79058) illustrate that ASPSCR1 is expressed across multiple tissues, including skeletal muscle, adipose tissue, and regions of the central nervous system. Because energy metabolism and sleep homeostasis are tightly interconnected, variations in glucose sequestration pathways offer a plausible mechanistic bridge between cellular metabolism and sleep patterns.

The Scientific Link to Sleep Health Scores

In large-scale genomic analyses analyzing hundreds of thousands of participants, researchers have grouped complex sleep traits—such as chronotype, sleep duration, insomnia symptoms, and daytime somnolence—into multidimensional composite scores. Findings cataloged in the [GWAS Catalog](https://www.ebi.ac.uk/gwas/search?query=rs8074498) and published in [PubMed Central](https://pmc.ncbi.nlm.nih.gov/articles/PMC10863010/) identified rs8074498 as an independent functional lead locus associated with principal component sleep health metrics that load heavily on sleep duration and insomnia. Despite reaching statistical significance across large cohorts, the absolute effect size of rs8074498 on individual sleep variation is modest. Sleep architecture is a polygenic trait shaped by hundreds of genetic loci alongside environmental and behavioral influences, meaning this variant contributes only a minor fraction to overall sleep patterns.

Population Diversity and Allele Frequencies

Frequency estimates across global cohorts show that the minor allele at rs8074498 is commonly carried in populations of European ancestry, with a minor allele frequency typically ranging between 0.15 and 0.25. Datasets from international sequencing consortia and [gnomAD](https://gnomad.broadinstitute.org/) reveal that allele distributions vary among ancestral groups, with different baseline frequencies observed in African, East Asian, and admixed populations. Most available sleep score GWAS data featuring rs8074498 have been conducted in predominantly European cohorts, such as the UK Biobank. Consequently, the applicability and relative effect of this locus across more ancestrally diverse groups remain an area of ongoing study.

What Consumers and Patients Should Know

Learning your genotype at rs8074498 provides educational insight into polygenic traits, but it cannot be used to diagnose a sleep disorder or evaluate insomnia. The evidence linking this variant to sleep health is classified as limited and exploratory, explaining only a small statistical fraction of population-level variation. Sleep quality is largely driven by lifestyle factors, light exposure, stress, circadian rhythm hygiene, and underlying health conditions. Furthermore, this genetic marker has no validated role in predicting medication responses or guiding clinical therapies. Individuals experiencing chronic sleep disturbances, fatigue, or suspected sleep apnea should consult a healthcare provider for comprehensive clinical evaluation rather than relying on commercial genetic readouts.

How common is this variant?

The minor allele frequency for rs8074498 ranges approximately between 0.15 and 0.25 across European ancestries. Global population datasets indicate that allele distribution varies across broader ancestral backgrounds, though most published sleep association evidence is derived from European cohorts.

Frequently asked questions

Does having the rs8074498 variant mean I will suffer from insomnia?

No. The variant rs8074498 is only linked to minor statistical shifts in composite sleep scores across large cohorts. It is not a causative mutation for clinical insomnia, which is heavily influenced by stress, sleep hygiene, and medical health.

Why is a glucose transporter gene like ASPSCR1 involved in sleep?

ASPSCR1 encodes a protein that helps regulate the transport of glucose via GLUT4 in various tissues. Emerging research suggests that central energy homeostasis and metabolic pathways share biological cross-talk with circadian and sleep-wake cycles, explaining why metabolic genes can surface in sleep-related GWAS.

Can testing for rs8074498 help choose a sleep medication?

No. There are no clinical guidelines or pharmacogenomic databases associating rs8074498 with medication efficacy or adverse drug reactions. Decisions regarding sleep medications should always be made under the guidance of a qualified clinician or pharmacist.

How strong is the scientific evidence for rs8074498?

The current evidence is categorized as limited. While it reached genome-wide significance in a large composite sleep analysis, it represents only one small component of a highly polygenic trait and has not been established as a diagnostic marker.

Sources & further reading

Educational information only, last refreshed 9/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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