rs11597390

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum alanine aminotransferase amount, enzyme/coenzyme activity trait

Yuan X et al. “Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.” American Journal of Human Genetics 83(4):520-8 (2008)
Allele A
OR 0.04
p 2.0e-8
N 7,751
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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The Association of Genetic Variability in Patatin-Like Phospholipase Domain-Containing Protein 3 (PNPLA3) with Histological Severity of Nonalcoholic Fatty Liver Disease†
AssociationN=1,117Yaron Rotman et al.(2010)· Hepatology

In a cohort of 894 adults with histologically-confirmed NAFLD, the rs738409 minor allele in PNPLA3 (I148M) was associated with increased steatosis (p=0.03, OR 1.46), portal inflammation (p=2.5×10⁻⁴, OR 1.57), lobular inflammation (p=0.005, OR 1.84), Mallory-Denk bodies (p=0.015, OR 1.55), and fibrosis (p=7.7×10⁻⁶, OR 1.50 per G allele). Three SNPs on chromosome 10 (rs11591741, rs11597086, rs11597390) in the CPN1-ERLIN1-CHUK region were independently associated with fibrosis severity (p=0.010). In pediatric patients, rs738409 G allele was associated with younger age at biopsy (p=0.045).

Traits studied:FibrosisHepatic steatosisLobular inflammationMallory-Denk bodiesNAFLD activity scoreNon-alcoholic fatty liver disease (NAFLD)Non-alcoholic steatohepatitis (NASH)Portal inflammation
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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