rs738491

This is a downstream gene variant variant in the SAMM50 gene.

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GWAS Catalog Trait Associations (1)

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 T
OR 1.60
p 1.0e-18
N 8,574
Large GWAS
East Asian
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Research that mentions this SNP (2)

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Association Between Liver-Specific Gene Polymorphisms and Their Expression Levels With Nonalcoholic Fatty Liver Disease
ReviewLeon A. Adams et al.(2013)· Hepatology

A comprehensive review of the pathogenesis of non-alcoholic fatty liver disease (NAFLD) in children and adolescents, examining the evolution from the 'two-hit theory' to the 'multiple-hit model'. The paper discusses genetic factors including PNPLA3 rs738409 and GCKR rs1260326 polymorphisms, which together account for up to one-third of variability in liver fat content in obese children, along with contributions from MBOAT7, SAMM50, PARVB, TM6SF2, and other genes involved in lipid metabolism.

Traits studied:Fatty liverLiver fibrosisNon-alcoholic fatty liver disease (NAFLD)Non-alcoholic steatohepatitis (NASH)
PubMedDOIMetascience Observatory
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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 SAMM50

This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]

View all SAMM50 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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