Expressive

rs10496316 (RPSAP22/PARTICL): GGCX eQTL variant

Key takeaways

  • rs10496316 is linked to increased GGCX gene activity in at least eight tissues including brain, blood, and cardiovascular tissue
  • The strongest gene activity signals appear in brain cerebellum, spleen, and prostate
  • This variant was examined in large genetic studies totaling 153,950 Korean and 363,228 UK Biobank participants
  • The main finding is a broad gene activity signal across tissues; no specific disease or health condition link is confirmed in the available data

Key takeaways

  • rs10496316 is linked to consistently increased GGCX gene expression across at least eight distinct tissues
  • The strongest gene activity signals appear in brain cerebellum, spleen, and prostate
  • This variant was examined in large genetic studies covering 153,950 Korean and 363,228 UK Biobank participants
  • The primary documented finding is a broad gene activity signal spanning multiple organ systems; no specific disease or health condition link is confirmed in the available data

What the research says GTEx v11 data from 953 tissue donors identifies rs10496316 as a significant cis-eQTL (a variant correlated with the activity level of a nearby gene) for GGCX, with increased expression detected across eight tissues at p-values far below genome-wide significance thresholds GTEx Portal. Two large genome-wide association studies (GWAS) - one examining 36 quantitative traits including hematological, metabolic, and cardiovascular measures in 153,950 Korean Cancer Prevention Study-II participants, and one examining 35 blood and urine biomarkers in 363,228 UK Biobank participants - constitute the broader discovery context for this locus, though per-variant association data specific to rs10496316 are not available in the provided study excerpts.

Reported associations

  • GGCX expression (multi-tissue): The alternate allele at this locus is associated with increased GGCX expression across eight tissues: brain cerebellum (p=2.3e-12), spleen (p=3.0e-10), prostate (p=5.2e-12), aorta (p=6.3e-20), tibial nerve (p=8.7e-24), thyroid (p=3.0e-18), tibial artery (p=4.8e-20), and whole blood (p=6.9e-19) GTEx Portal

Evidence quality The GTEx eQTL associations are statistically robust: all eight tissues pass FDR < 0.05, and p-values range from p=3.0e-10 in spleen to p=8.7e-24 in tibial nerve, based on 953 donors GTEx Portal. The two GWAS studies represent well-powered discovery resources, with the Korean cohort reporting SNP-heritability estimates for its 36 tested traits ranging from 0.034 to 0.347 across phenotypes, indicating meaningful genetic signal within the broader study. However, per-variant association statistics, effect sizes, and replication data specific to rs10496316 are absent from the provided excerpts, preventing assessment of phenotypic effect size or replication status for this locus. No conflicting findings are noted in the available data.

Tissue-specific expression effects

  • GGCX: Increased expression in brain cerebellum, spleen, prostate, aorta, tibial nerve, thyroid, tibial artery, and whole blood - the alternate allele is consistently linked to higher GGCX gene activity spanning multiple organ systems GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What gene does rs10496316 affect?

rs10496316 is associated with increased expression of the GGCX gene across multiple tissues including brain cerebellum, whole blood, spleen, prostate, and arterial tissue, based on GTEx data from 953 tissue donors.

Where is rs10496316 located in the genome?

rs10496316 is designated RPSAP22 - PARTICL, reflecting its genomic position near RPSAP22 and PARTICL.

How many people were studied in relation to rs10496316?

Two large genome-wide association studies provide population context: one in 153,950 Korean Cancer Prevention Study-II participants examining 36 quantitative traits, and one in 363,228 UK Biobank participants examining 35 blood and urine biomarkers. GTEx eQTL data draws from 953 tissue donors.

Which tissues show the strongest GGCX expression effects from rs10496316?

GTEx data shows increased GGCX expression across all eight tissues, with the most statistically significant signals in tibial nerve (p=8.7e-24), aorta (p=6.3e-20), and tibial artery (p=4.8e-20). Pronounced effects are also observed in brain cerebellum, spleen, and prostate.

Is rs10496316 linked to any specific diseases or health conditions?

The available data for rs10496316 focuses on gene expression changes across tissues rather than disease outcomes. The two cited genome-wide association studies examined a broad range of biomarkers and quantitative traits, but specific disease or health outcome associations for this variant are not detailed in the available data.