rs12406058 (LINC02869): mitral valve prolapse link

Key takeaways

  • rs12406058 is linked to mitral valve prolapse
  • it reduces TGFB2 expression in thyroid tissue
  • the GWAS effect size is 1.52 with p=1e-10

Key takeaways

  • rs12406058 is linked to mitral valve prolapse.
  • it reduces TGFB2 expression in thyroid tissue.
  • the GWAS effect size is 1.52 with p=1e-10.

What the research says The GWAS shows an association with mitral valve prolapse, risk allele A, effect size 1.52 p=1e-10 PMID 35245370. GTEx data indicates reduced TGFB2 expression in thyroid tissue [GTEx].

Reported associations

  • Mitral valve prolapse: the variant is associated with this condition, risk allele A, reported effect size 1.52 p=1e-10 PMID 35245370.

Evidence quality The GWAS used about 439 thousand individuals, the variant has a p-value of 1e-10 and is not replicated in other studies PMID 35245370. The GTEx expression effect is from a cis-window analysis with 953 donors, FDR<0.05 [GTEx].

Tissue- specific expression effects

  • GTFB2: reduced expression in thyroid tissue GTEx Portal.

No lifestyle considerations on file for this variant.

Frequently asked questions

What does rs12406058 mean?

It is a genetic variant associated with mitral valve prolapse and linked to lower TGFB2 expression in thyroid tissue.

Is this variant harmful?

The GWAS shows an association but no direct health risk; it may affect gene expression only.

Can I test for rs12406058?

It is not a clinical diagnostic marker and is not recommended for routine testing.