Expressive

rs10166692 (PRKCE): Expression Variant in Blood and Testis

Key takeaways

  • rs10166692 is linked to lower PRKCE gene expression in testis and whole blood based on GTEx v11 data from 953 donors.
  • Both tissue associations reach genome-wide significance (testis: p=2.5e-7, whole blood: p=3.3e-7).
  • This variant acts as an eQTL, meaning it influences how actively a nearby gene is read in specific tissues rather than altering the gene itself.
  • No clinical outcomes or lifestyle associations are established from the available evidence.

Key takeaways

  • rs10166692 is linked to lower PRKCE gene expression in testis and whole blood, based on GTEx v11 data from 953 donors.
  • Both tissue associations reach genome-wide significance (testis: p=2.5e-7, whole blood: p=3.3e-7).
  • This variant acts as an eQTL (expression quantitative trait locus) - a genetic difference that affects how actively a nearby gene is read in specific tissues, not a change to the gene's sequence itself.
  • No clinical outcome associations or lifestyle connections are established for this variant in the available evidence.

What the research says GTEx v11 data from 953 donors identifies rs10166692 as a cis-eQTL (a variant that influences expression of a physically nearby gene) for PRKCE, with individuals carrying the alternate allele showing lower expression of the gene in testis (slope -0.18, p=2.5e-7) and whole blood (slope -0.14, p=3.3e-7) GTEx Portal. A genome-wide association study of metabolic traits in 490 elite athletes (Scientific reports, 2020) provides context for genetic research in physically active populations, but the available text from that study does not explicitly discuss rs10166692 or identify it among its reported loci.

Reported associations

  • PRKCE expression in testis: the alternate allele is associated with reduced gene expression (slope -0.18, p=2.5e-7, GTEx v11, n=953 donors) GTEx Portal
  • PRKCE expression in whole blood: the alternate allele is associated with reduced expression (slope -0.14, p=3.3e-7, GTEx v11, n=953 donors) GTEx Portal

Evidence quality Both associations derive from GTEx v11, a large reference dataset of 953 donors, and reach p-values of 2.5e-7 (testis) and 3.3e-7 (whole blood), exceeding standard genome-wide significance thresholds GTEx Portal. These are eQTL findings describing how the variant relates to gene expression levels in healthy reference tissue, not associations with clinical outcomes or disease risk. A metabolic GWAS of 490 elite athletes (Al-Khelaifi et al., Scientific reports, 2020; no PMID listed in available study metadata) identified novel loci in FOLH1, VNN1, and SULT2A1 in connection with endurance sports metabolites, but does not explicitly name rs10166692 in the available text, so no associations from that work are drawn here. The overall evidence base for this variant is limited to tissue-specific expression data, with no replication against clinical outcomes in the provided sources.

Tissue-specific expression effects

  • PRKCE: the alternate allele is associated with reduced expression in testis and reduced expression in whole blood, both at genome-wide-significant thresholds GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs10166692 do?

rs10166692 is an eQTL (expression quantitative trait locus), meaning it influences how actively the PRKCE gene is expressed in certain tissues. People carrying the alternate allele show lower PRKCE expression in testis and whole blood.

Which tissues are affected by rs10166692?

According to GTEx v11 data from 953 donors, rs10166692 is associated with reduced PRKCE expression specifically in testis and whole blood.

Is rs10166692 linked to any health conditions?

No direct link to specific health conditions is established in the available evidence. The known association is with gene expression levels in reference tissue, not with clinical outcomes or disease risk.

How strong is the evidence for rs10166692 affecting PRKCE expression?

The evidence comes from GTEx v11, a large reference dataset of 953 donors, and reaches genome-wide significance in both testis (p=2.5e-7) and whole blood (p=3.3e-7). This is robust evidence for an eQTL association, though no clinical outcome replication studies are available in the provided sources.

Is rs10166692 related to athletic performance?

A genome-wide study of metabolic traits in 490 elite athletes provides background context for genetic research in active populations, but the available text from that study does not explicitly connect rs10166692 to athletic performance or any specific metabolite.