Expressive

rs12295535 (PRR5L): Whole Blood Expression Variant

Key takeaways

  • The ALT allele of rs12295535 is associated with reduced PRR5L expression in whole blood
  • The gene-expression effect was detected across 953 donors in GTEx v11 and is statistically significant
  • Research on this variant spans metabolic GWAS in elite athletes and large-scale atopic dermatitis genetics studies
  • No lifestyle-specific findings are established in the current evidence base

Key takeaways

  • The ALT allele of rs12295535 is associated with reduced PRR5L expression in whole blood
  • This gene-expression effect was detected across 953 donors in GTEx v11 and is statistically significant (p = 8.2×10^-5)
  • Research on this variant spans a metabolic GWAS in elite athletes and a large Immunochip genotyping study of atopic dermatitis
  • No lifestyle-specific findings are established in the current evidence base

What the research says The primary documented molecular effect of rs12295535 is a cis-expression quantitative trait locus (cis-eQTL) association: in whole blood, the ALT allele is linked to modestly reduced PRR5L expression (slope −0.15, p = 8.2×10^-5, FDR < 0.05, GTEx v11, 953 donors) GTEx Portal. Two research studies form the broader evidence context - a metabolic genome-wide association study (GWAS) conducted in 490 elite athletes examining common variant metabolic quantitative trait loci (mQTLs) across serum metabolite profiles, and a high-density Immunochip genotyping study of atopic dermatitis (a common inflammatory skin disease with a strong heritable component) encompassing a discovery cohort of 2,425 cases and 5,449 controls followed by replication in 7,196 cases and 15,480 controls across European, Irish, Japanese, and Chinese samples. The specific association statistics for rs12295535 or PRR5L are not detailed in the available excerpts of either study, so no clinical trait associations can be attributed to this variant on the basis of the provided text.

Reported associations

  • PRR5L expression (whole blood): The ALT allele is associated with reduced PRR5L expression in whole blood (slope −0.15, p = 8.2×10^-5; GTEx v11, n = 953 donors, FDR < 0.05) GTEx Portal

Evidence quality The gene-expression association in whole blood rests on GTEx v11 data from 953 donors and clears the FDR < 0.05 threshold (nominal p = 8.2×10^-5), providing moderate confidence in the cis-eQTL effect at this locus. The effect size is modest (slope −0.15 in log2-normalized units). Two contextual studies were identified: an elite-athlete metabolic GWAS (Scientific Reports, 2020; n = 490 elite athletes, 275,016 QC-passing SNPs, 751 serum metabolites) and an atopic dermatitis Immunochip study (Nature Genetics, 2013; up to 9,621 cases and 20,929 controls across four populations, identifying four new susceptibility loci that together with known loci explain an estimated 14.4% of disease heritability). Because neither study explicitly characterizes rs12295535 or PRR5L in the available text, it is premature to describe clinical trait associations for this variant beyond the whole-blood expression effect. The evidence base is therefore preliminary.

Tissue-specific expression effects

  • PRR5L: Reduced expression in whole blood for ALT allele carriers; effect slope −0.15 (p = 8.2×10^-5, GTEx v11, n = 953 donors, FDR < 0.05) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs12295535?

rs12295535 is a single-nucleotide variant located in the PRR5L gene region. The clearest documented effect is that its ALT allele is associated with lower PRR5L expression in whole blood, based on GTEx v11 expression data from 953 donors.

How does rs12295535 affect PRR5L gene expression?

In whole blood, carriers of the ALT allele show modestly reduced PRR5L expression compared to carriers of the reference allele. This cis-eQTL effect was observed with a p-value of 8.2×10^-5 and cleared the FDR < 0.05 significance threshold in GTEx v11.

Is rs12295535 linked to atopic dermatitis?

A large Immunochip genotyping study of atopic dermatitis involving up to 9,621 cases and 20,929 controls is part of the evidence base for this variant, but the available study excerpts do not describe a specific association for rs12295535 at that condition.

Is rs12295535 relevant to athletic performance?

A metabolic GWAS in 490 elite athletes examining serum metabolite profiles is part of the research context for this variant, but the available study excerpts do not describe a specific effect of rs12295535 on athletic performance or associated metabolites.

In which tissues has a rs12295535 expression effect been reported?

Based on GTEx v11 data, a statistically significant expression effect for rs12295535 on PRR5L has been detected in whole blood. No other tissues are reported in the available evidence.