Expressive

rs12349943 - ADAMTSL1: ulcerative colitis link

Key takeaways

  • This variant is linked to ulcerative colitis with a reported effect size of 4.23 and p=6e-6 in about 5000 individuals.
  • It increases ADAMTSL1 expression in pituitary tissue.
  • Evidence comes from GWAS Catalog and GTEx data.

Key takeaways

  • This variant is linked to ulcerative colitis with a reported effect size of 4.23 and p=6e-6 in about 5000 individuals.
  • It increases ADAMTSL1 expression in pituitary tissue.
  • Evidence comes from GWAS Catalog and GTEx data.

What the research says This variant is associated with ulcerative colitis [PMID 41661118]. It also shows increased expression of ADAMTSL1 in pituitary tissue [GTEx].

Reported associations

  • Ulcerative colitis: this variant increases risk with a reported effect size of 4.23 p=6e-6 in about 5000 individuals [PMID 41661118].
  • Pituitary expression: the ALT allele raises ADAMTSL1 expression in pituitary tissue [GTEx].

Evidence quality The GWAS Catalog study reports a strong association with ulcerative colitis using 5000 participants and p=6e-6. The GTEx data shows a significant eQTL signal in pituitary tissue with slope +0.51 p=3.8e-5. No conflicting findings are reported.

Tissue-specific expression effects

  • ADAMTSL1: increased expression in pituitary GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Genetic predisposition to ulcerative colitis Moderate

    This variant shows strong association with ulcerative colitis risk in Amerindian-ancestry populations (effect=4.227, p=6.00e-6, n=5714)

    Ask about surveillance strategies and early symptom recognition

Frequently asked questions

What does rs12349943 mean?

rs12349943 is a genetic variant that has been associated with ulcerative colitis and also raises ADAMTSL1 expression in the pituitary.

Is this variant related to cancer?

The studies do not report any link between rs12349943 and cancer.

Can I test for this variant?

You can order a DNA test that includes rs12349943, but it is primarily known for its association with ulcerative colitis.