Expressive

rs12154248 (JAZF1): risk allele T linked to higher Alanine aminotransferase

Key takeaways

  • rs12154248 is associated with higher Alanine aminotransferase levels
  • the variant has a small effect on Total bilirubin levels
  • both associations are strong (p-values very low)

Key takeaways

  • rs12154248 is associated with higher Alanine aminotransferase levels
  • the variant has a small effect on Total bilirubin levels
  • both associations are strong (p-values very low)

What the research says The GWAS Catalog shows rs12154248 is linked to higher Alanine aminotransferase levels in the T allele PMID 33547301. It also shows a small increase in Total bilirubin levels with the same allele PMID 34594039.

Reported associations

  • Alanine aminotransferase levels this variant is associated with higher Alanine aminotransferase levels reported effect size 9.2 p=3e-20 in about 390 thousand individuals [PMID 33547301].
  • Total bilirubin levels this variant is associated with slightly higher Total bilirubin levels reported effect size 0.02 p=6e-13 in about 467 thousand individuals [PMID 34594039].

Evidence quality The evidence comes from two GWAS Catalog associations each involving large samples 390 thousand for Alanine aminotransferase and 467 thousand for Total bilirubin levels with very low p-values indicating strong statistical significance no conflicting results are reported.

Tissue- specific expression effects

  • JAZF1: reduced expression in liver, increased expression in brain spinal cord cervical c-1, decreased expression in pancreas GTEx Portal

No lifestyle considerations on file for this variant.

Lifestyle context

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

Bloodwork

  • liver function panel Moderate

    rs12154248-T is robustly associated with elevated alanine aminotransferase and total bilirubin across large populations, indicating altered hepatic enzyme expression.

    Obtain baseline and annual liver function tests (ALT, AST, total bilirubin)

Discuss with your doctor

  • liver health monitoring strategy Moderate

    Genetic predisposition to altered liver enzyme levels should be addressed with clinical assessment and a physician-directed monitoring plan.

Lifestyle

  • excess alcohol consumption Moderate

    Alcohol metabolism depends on hepatic function; carriers of rs12154248-T with predisposition to elevated liver enzymes should minimize additional hepatic stress.

Frequently asked questions

What does rs12154248 mean?

rs12154248 is a DNA change in the JAZF1 gene that tends to be found with the T allele and is linked to higher Alanine aminotransferase levels.

Is rs12154248 related to liver disease?

The variant is associated with higher Alanine aminotransferase which can affect liver function but it does not cause a specific liver disease.

Can this variant be tested for?

Yes rs12154248 appears in the GWAS Catalog and can be identified using standard genetic testing panels.