rs10790497 - CNTN5 brain volume change and protein levels

Key takeaways

• This variant is linked to changes in brain volume over time with a strong effect size of 262.53 and p=4e-6 based on a large GWAS [PMID 35383335].
• It also influences CNTN5 protein levels with an even stronger effect size of 0.19 and p=9e-286 in another GWAS [PMID 39789286].
• GTEx shows reduced expression of CNTN5 in artery aorta tissue with a slope of -0.31 [GTEx Portal].

What the research says This variant is associated with total brain volume change rate and risk allele A [PMID 35383335]. It is also linked to higher CNTN5 protein levels and risk allele G [PMID 39789286]. GTEx data indicates reduced expression of CNTN5 in artery aorta tissue [GTEx Portal].

Reported associations

• Total brain volume change rate: the variant is associated with a total brain volume change rate reported effect size 262.53 p=4e-6 in about 15 thousand individuals risk allele A [PMID 35383335].
• CNTN5 protein levels: this variant is associated with CNTN5 protein levels reported effect size 0.19 p=9e-286 in about 47 thousand individuals risk allele G [PMID 39789286].

Evidence quality The supplied studies do not report a direct trait association for this variant; the rsid appears via GWAS Catalog entries. Study 1 is a genome-wide association study linking the variant to brain volume change with effect size 262.53 p=4e-6 sample size ~15000. Study 2 is another GWAS linking it to CNTN5 protein levels with effect size 0.19 p=9e-286 sample size ~47000. Both are high quality but not clinical.

Tissue-specific expression effects

• CNTN5: reduced expression in artery aorta [GTEx Portal]. No lifestyle considerations on file for this variant.