Expressive

rs11214475 NCAM1: cognitive link and tissue expression

Key takeaways

  • Cognitive ability is higher with the variant.
  • Muscle expression is lower.
  • Adrenal expression is higher.

Key takeaways

  • Cognitive ability is higher with the variant.
  • Muscle expression is lower.
  • Adrenal expression is higher.

What the research says The GWAS used about 300 thousand individuals and reported a strong association (p=1e-6) [29844566]. The GTEx data show consistent cis-cis expression effects with low false discovery rates. NCAM1 expression is reduced in muscle skeletal tissues, with a reported effect size of -0.27 (p=8.5e-14). NCAM1-AS1 shows increased expression in the adrenal gland, with a reported effect size of +0.25 (p=9.2e-6).

Reported associations

  • General cognitive ability: the variant is associated with higher scores, reported effect size 4.87 p=1e-6 in about 300 thousand individuals [29844566].
  • NCAM1 expression reduced in muscle skeletal tissues: the allele reduces expression by -0.27 (p=8.5e-14) [GTEx Portal].
  • NCAM1-AS1 increased expression in adrenal gland: the allele increases expression by +0.25 (p=9.2e-6) [GTEx Portal].

Evidence quality The GWAS used about 300 thousand individuals and reported a strong association (p=1e-6). The GTEx data show consistent cis-cis expression effects with low false discovery rates.

Tissue-specific expression effects

  • NCAM1: reduced expression in muscle skeletal tissues [GTEx Portal].

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs11214475 mean?

It is a change in one DNA letter that can affect how the NCAM1 gene works and has been linked to cognitive ability.

Is this variant related to disease?

The evidence shows it affects expression in muscle, esophagus, and adrenal gland but does not cause any known disease.

Can I change my diet based on this?

There are no lifestyle recommendations tied to this SNP; the data do not support changes.