Expressive

rs12113051 (LINC02577): Aorta Expression Variant

Key takeaways

  • The ALT allele of rs12113051 is linked to higher expression of nearby genes in artery aorta and adrenal gland, based on GTEx data from 953 donors.
  • The aorta expression signal for CTB-30L5.1 is particularly strong (p=6.2e-8).
  • This locus sits in a region studied for shared genetic risk between Alzheimer's disease and cardiovascular conditions.
  • Confirmed disease trait associations for rs12113051 are not documented in available research; current evidence is limited to gene expression data.

Key takeaways

  • The ALT allele of rs12113051 is linked to higher expression of nearby genes in artery aorta and adrenal gland, based on GTEx v11 data from 953 donors.
  • The aorta expression signal for CTB-30L5.1 is particularly strong (p=6.2e-8), supporting a genuine regulatory effect at this locus.
  • This locus falls in a region under active research for shared genetic risk between Alzheimer's disease and cardiovascular conditions.
  • Confirmed disease trait associations for rs12113051 are not documented in the available research materials; current evidence rests on gene expression data only.

What the research says A 2024 multi-trait genome-wide association study (Koskeridis et al., Nature Communications) examined shared genetic architecture between Alzheimer's disease (AD) and a broad range of cardiovascular (CV) traits, identifying 16 genetic loci associated with both disease categories and highlighting inflammatory and pleiotropic mechanisms - meaning single genes influencing multiple traits - as key shared risk determinants. Separately, GTEx v11 expression data from 953 donors shows that the ALT allele of rs12113051 is associated with increased expression of CTB-30L5.1 in adrenal gland (slope +0.36, p=2.2e-7) and artery aorta (slope +0.35, p=6.2e-8), and with increased expression of ENSG00000243797 in both tissues GTEx Portal. The provided study text does not specifically name rs12113051 among its highlighted loci, so no direct trait association can be attributed to this variant from the available materials.

Reported associations

  • CTB-30L5.1 expression (adrenal gland): ALT allele associated with increased expression (slope +0.36 on a log2-normalized scale, p=2.2e-7) GTEx Portal
  • CTB-30L5.1 expression (artery aorta): ALT allele associated with increased expression (slope +0.35, p=6.2e-8) GTEx Portal
  • ENSG00000243797 expression (adrenal gland): ALT allele associated with increased expression (slope +0.27, p=4.4e-5) GTEx Portal
  • ENSG00000243797 expression (artery aorta): ALT allele associated with increased expression (slope +0.26, p=7.2e-5) GTEx Portal

Evidence quality All four reported associations are eQTL (expression quantitative trait locus) findings from GTEx v11, a well-powered reference dataset of 953 donors. The CTB-30L5.1 signal in artery aorta (p=6.2e-8) is particularly robust by eQTL standards, while the ENSG00000243797 signals (p=4.4e-5 and p=7.2e-5) are consistent with a real effect but carry less certainty. Critically, eQTL data describes changes in gene expression levels rather than direct links to disease outcomes or clinical phenotypes. The 2024 Koskeridis et al. multi-trait GWAS identified 16 loci shared between AD and CV traits, but the provided text does not name rs12113051 as one of them, so a disease-level association cannot be confirmed from available materials. The overall evidence base for this variant is therefore preliminary.

Tissue-specific expression effects

  • CTB-30L5.1: The ALT allele is associated with increased expression in adrenal gland and artery aorta, with the aorta showing the stronger of the two signals GTEx Portal
  • ENSG00000243797: The ALT allele is associated with increased expression in both adrenal gland and artery aorta GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is LINC02577?

LINC02577 is a long intergenic non-coding RNA, meaning it is transcribed from DNA into RNA but does not produce a protein. Its precise biological function is not fully established in the research materials available for this variant.

What does rs12113051 do to gene expression?

Based on GTEx v11 data from 953 donors, the ALT allele of rs12113051 is associated with increased expression of CTB-30L5.1 and ENSG00000243797 in adrenal gland and artery aorta tissue. These are expression-level findings and do not directly confirm disease associations.

Is rs12113051 linked to Alzheimer's disease or heart disease?

This locus is in a region studied for shared genetic risk between Alzheimer's disease and cardiovascular conditions, but the available research materials do not directly name rs12113051 as a confirmed disease-associated variant. Current evidence is limited to gene expression data.

How strong is the evidence for rs12113051?

The evidence is preliminary. The strongest signal is an eQTL effect in artery aorta tissue (p=6.2e-8) from GTEx v11. No direct disease trait associations for this specific variant are documented in the provided research materials.

What is an eQTL?

An eQTL (expression quantitative trait locus) is a genetic variant associated with a change in how much a nearby gene is expressed, or how active that gene is in a given tissue. eQTL findings reflect regulatory effects on gene activity, not direct links to diseases or clinical outcomes.