rs9467160

This is a regulatory region variant variant in the GPLD1 gene.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement, 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 0.03
p 1.0e-11
N 7,751
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease†,‡
AssociationN=2,083Elizabeth K. Speliotes et al.(2010)· Hepatology

A case-control study examining genetic variants associated with liver function tests and steatosis and their relationship to histologically-defined nonalcoholic fatty liver disease (NAFLD). The rs738409 PNPLA3 variant showed the strongest association with NAFLD (OR = 3.26, 95% CI 2.11-7.21, p = 3.60E-43), and displayed significant associations with severe histologic features including fibrosis, ballooning, and inflammation within the NAFLD cohort. Other genetic variants at CPN1, ABO, GPLD1, JMJD1C, GGT1, and HNF1A loci did not show significant associations with NAFLD, suggesting PNPLA3 genetic variation specifically confers increased risk for histologic NAFLD without strong effects on metabolic traits.

Traits studied:Hepatic fibrosisHepatocellular ballooningLiver inflammationLiver steatosisNonalcoholic fatty liver disease (NAFLD)Nonalcoholic steatohepatitis (NASH)
PubMedDOIMetascience Observatory

About GPLD1

Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

View all GPLD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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