rs2896019

This is a intron variant variant in the PNPLA3 gene.

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GWAS Catalog Trait Associations (9)

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

non-alcoholic fatty liver disease

Kawaguchi T et al. “Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.” Plos One 13(1):e0185490 (2018)
Allele G
OR 1.85
p 2.0e-31
N 8,574
Large GWAS
East Asian

aspartate aminotransferase measurement

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele G
OR 0.09
p 2.0e-12
N 14,402
Large GWAS
East Asian

serum alanine aminotransferase amount

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele G
OR 0.09
p 2.0e-12
N 14,402
Large GWAS
East Asian

leukocyte quantity

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 3.0e-10
N 504,825
Large GWAS
multi-ancestry

free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 5.0e-10
N 136,016
Large GWAS
multi-ancestry

cirrhosis of liver

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.22
p 3.0e-14
N 178,726
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan
AssociationN=3,518Takuya Kitamoto et al.(2013)· Human Genetics

Genome-wide association study in Japanese population identified nine SNPs in PNPLA3 (rs738409, rs2896019, rs3810622), SAMM50 (rs738491, rs3761472, rs2143571, rs6006473), and PARVB (rs5764455, rs6006611) genes strongly associated with nonalcoholic fatty liver disease (NAFLD) development and progression. rs738409 showed the strongest association (P = 6.8×10⁻¹⁴, OR = 2.05); other SNPs had P < 2.0×10⁻¹⁰ and ORs of 1.84–2.02. These variants were associated with decreased serum triglycerides, increased liver enzymes (AST/ALT), and histological features including steatosis grade and fibrosis.

Traits studied:Alanine aminotransferase (ALT)Aspartate aminotransferase (AST)Hepatocyte ballooningLiver fibrosisLiver steatosisLobular inflammationNAFLD activity score (NAS)Nonalcoholic fatty liver disease (NAFLD)Nonalcoholic steatohepatitis (NASH)Serum triglycerides
PubMedDOIMetascience Observatory

About PNPLA3

The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]

View all PNPLA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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