rs10893251 (OR8B12): Testis expression variant

Key takeaways

• The alternate allele at rs10893251 is linked to reduced OR8B12 gene expression in testis tissue, a highly significant finding (p=3.0e-13) from GTEx data covering 953 donors.
• A secondary association with reduced expression of a neighboring gene (ENSG00000285561) is observed in brain frontal cortex tissue (p=5.7e-5).
• This locus was investigated in a metabolomics genome-wide association study of 490 elite athletes, though specific metabolite associations for this variant are not detailed in the available study text.
• Current evidence is limited to tissue-level gene expression effects; clinical or trait-level associations are not documented in the provided literature.

What the research says A metabolomics genome-wide association study (mGWAS) - a design that links genetic variants to measurable metabolite levels in blood - genotyped 275,016 quality-controlled SNPs (single-nucleotide polymorphisms, meaning single-letter differences in DNA) and profiled 751 serum metabolites across 490 elite athletes to identify metabolomics quantitative trait loci (mQTLs), i.e., variants influencing metabolite levels, relevant to athletic performance. Independently, GTEx v11 cis-eQTL analysis (expression quantitative trait loci - variants associated with nearby gene expression levels) of 953 donors identifies the alternate allele at rs10893251 as associated with reduced OR8B12 expression in testis and reduced ENSG00000285561 expression in brain frontal cortex GTEx Portal.

Reported associations

• Athletic performance metabolomics context: This variant appears in the context of an mGWAS of 490 elite athletes (275,016 SNPs, 751 serum metabolites) that identified novel mQTLs including loci at FOLH1, VNN1, and SULT2A1 associated with endurance sports performance. Specific metabolite associations for rs10893251 individually are not detailed in the available study excerpt.

Evidence quality GTEx v11 eQTL data from 953 donors with cis-window analysis at FDR less than 0.05 provides the most direct evidence for rs10893251 effects. The testis association (p=3.0e-13) is highly significant; the brain frontal cortex association (p=5.7e-5) is more modest in both p-value and effect size (slope -0.19 vs. -0.27 in testis) GTEx Portal. The mGWAS in elite athletes (n=490) is a relatively small sample by GWAS standards, and specific findings for this variant from that study are not available in the provided text. No conflicting associations are present in the provided literature; rather, the evidence base itself is limited to expression-level data.

Tissue-specific expression effects

• OR8B12: The alternate allele is associated with reduced expression in testis tissue (p=3.0e-13) GTEx Portal.
• ENSG00000285561: The alternate allele is associated with reduced expression in brain frontal cortex (BA9, Brodmann area 9) (p=5.7e-5) GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.