Expressive

rs11005328 (ZWINT): Multi-Tissue Expression Variant

Key takeaways

  • The ALT allele at rs11005328 reduces ZWINT gene expression in all eight tissues where it has been measured.
  • The strongest effects appear in tibial nerve and subcutaneous fat tissue, with p-values reaching as low as 9.7e-26 in GTEx data from 953 donors.
  • Affected tissue types span the nervous system, circulatory system, skin, glands, and reproductive tissue.
  • This variant was studied in the context of a genome-wide metabolomics study of 490 elite athletes.
  • No clinical outcome or lifestyle associations are documented in the provided studies.

Key takeaways

  • The ALT allele at rs11005328 reduces ZWINT gene expression in all eight tissues where it has been measured.
  • The strongest effects appear in tibial nerve and subcutaneous fat tissue, with p-values reaching as low as 9.7e-26 in GTEx data from 953 donors.
  • Affected tissue types span the nervous system, circulatory system, skin, glands, and reproductive tissue.
  • This variant was studied in the context of a genome-wide metabolomics study of 490 elite athletes, though the specific rs11005328-ZWINT association is not described in the available study text.
  • No clinical outcome or lifestyle associations are documented in the provided studies.

What the research says GTEx v11 data from 953 donors identifies rs11005328 as a cis-expression quantitative trait locus (eQTL -- a genetic variant that influences how much a nearby gene is expressed) for ZWINT across eight tissues, with the ALT allele consistently reducing ZWINT expression at highly significant p-values GTEx Portal. This variant also appears in the context of a metabolomic genome-wide association study (mGWAS) of 490 elite athletes investigating genetically-influenced metabolites related to athletic performance, though the available study text does not specifically document an rs11005328-ZWINT association.

Reported associations

  • ZWINT expression (multiple tissues): The ALT allele is associated with reduced ZWINT expression across eight tissues, with effect sizes (log2-normalized slopes) ranging from -0.39 in sun-exposed leg skin to -0.97 in brain caudate basal ganglia, all at p-values well below genome-wide significance thresholds GTEx Portal

Evidence quality The eQTL evidence from GTEx v11 is statistically robust, derived from 953 donors across eight independent tissues, with p-values spanning 2.1e-10 to 9.7e-26 GTEx Portal. All eight tissues show a consistent direction of effect, which strengthens confidence in the finding. The sole associated clinical study is an mGWAS of 490 elite athletes (Scientific Reports, 2020); however, the available text from that study does not specifically mention rs11005328 or ZWINT, so no metabolite-QTL claim about this variant can be drawn from it. No conflicting findings are reported in the provided sources, and no phenotypic or clinical outcome associations are documented.

Tissue-specific expression effects

  • ZWINT: The ALT allele is associated with reduced expression in all eight tested tissues. The largest reductions are in brain caudate basal ganglia (slope -0.97) and tibial nerve (slope -0.88), followed by tibial artery (slope -0.77), subcutaneous adipose tissue (slope -0.76), breast mammary tissue (slope -0.62), testis (slope -0.66), thyroid (slope -0.56), and sun-exposed leg skin (slope -0.39). All effects are highly statistically significant (p-values from 1.0e-13 to 9.7e-26) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs11005328 do?

rs11005328 is linked to reduced expression of the ZWINT gene across at least eight body tissues. Carriers of the ALT allele tend to show lower ZWINT activity in areas including the brain, tibial nerve, arteries, and fat tissue.

Which tissues are affected by rs11005328?

GTEx data from 953 donors identifies eight tissues with significant effects: tibial nerve, brain caudate basal ganglia, tibial artery, subcutaneous adipose tissue, testis, breast mammary tissue, thyroid, and sun-exposed leg skin. The ALT allele reduces ZWINT expression in all of them.

Is rs11005328 linked to athletic performance?

This variant appears in the context of a metabolomics genome-wide association study of 490 elite athletes. However, the available study data does not document a direct link between rs11005328 and athletic performance outcomes.

How strong is the evidence for rs11005328?

The GTEx eQTL evidence is statistically strong, with p-values ranging from 2.1e-10 to 9.7e-26 across eight tissues in 953 donors. However, no clinical trait or health outcome associations are documented in the provided sources.

What is the ZWINT gene?

The provided studies do not describe the function of ZWINT in detail. The available evidence for rs11005328 covers tissue-specific gene expression effects but does not address what ZWINT does biologically.