Expressive

rs118063582 (FZD3): Testis Expression Variant

Key takeaways

  • The ALT allele at rs118063582 is associated with reduced FZD3 gene expression specifically in testicular tissue.
  • This expression effect was identified in GTEx v11 population data from 953 donors (p=1.6e-5).
  • The testis is the only tissue with a significant expression effect in the available data.
  • Evidence for this variant is limited to a single tissue-specific expression finding and should be considered preliminary.

Key takeaways

  • The ALT allele at rs118063582 is associated with reduced FZD3 gene expression specifically in testicular tissue.
  • This expression effect was identified in GTEx v11 population data from 953 donors (p=1.6e-5).
  • The testis is the only tissue with a significant expression effect in the available data.
  • Evidence for this variant is limited to a single tissue-specific expression finding and should be considered preliminary.

What the research says Genome-wide genotyping of 275,016 SNPs (single-nucleotide polymorphisms, individual DNA-letter changes) in 490 elite athletes was conducted alongside high-resolution metabolomics profiling of 751 serum metabolites to identify genetic influences on performance-related metabolic traits; the primary novel loci reported were near FOLH1, VNN1, and SULT2A1, and rs118063582 is not named among the primary findings in the available study text. Tissue-specific expression data from GTEx v11 shows that the ALT allele at rs118063582 is associated with reduced FZD3 expression in testis across 953 donors (p=1.6e-5), with no equivalent signal detected in other tissues included in the available data GTEx Portal.

Reported associations

  • FZD3 expression (testis): The ALT allele is associated with reduced FZD3 gene expression in testis tissue (p=1.6e-5, n=953 donors, GTEx v11) GTEx Portal

Evidence quality The primary available evidence is a single eQTL (expression quantitative trait locus, a measure of how a genetic variant influences gene activity) association from GTEx v11, based on 953 donors and meeting a false discovery rate threshold below 0.05, with p=1.6e-5 GTEx Portal. No independent replication of this association is documented in the available sources. A genome-wide metabolic study in 490 elite athletes provides broader research context but does not explicitly report rs118063582 as a top-ranked variant in the available text. The overall evidence base is narrow and should be regarded as preliminary.

Tissue-specific expression effects

  • FZD3: The ALT allele is associated with reduced expression in testis tissue; this is the only tissue reaching significance in the available GTEx v11 data GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs118063582?

rs118063582 is a genetic variant near the FZD3 gene. Current evidence shows it functions as an eQTL (expression quantitative trait locus), meaning it is associated with differences in FZD3 gene activity in specific tissues.

What does rs118063582 do to FZD3 expression?

In testicular tissue, the ALT allele at rs118063582 is associated with reduced FZD3 gene expression, based on GTEx v11 data from 953 donors (p=1.6e-5). No significant effect was observed in other tissues in the available data.

Is rs118063582 linked to athletic performance?

A metabolic GWAS study in 490 elite athletes examined genetic influences on performance-related metabolic traits, but rs118063582 is not named among the primary reported findings in the available study text. Any connection to athletic performance cannot be confirmed from the provided evidence.

How reliable is the evidence for rs118063582?

The main evidence is a single eQTL association from GTEx v11 (p=1.6e-5, n=953 donors). No independent replication is reported in the available sources, so the evidence is considered preliminary.