rs12355784

This variant is located in the JMJD1C gene.

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GWAS Catalog Trait Associations (2)

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

platelet volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.11
p —
N 460,935
Large GWAS
European
Sun P et al. “An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.” Human Molecular Genetics 30(9):836-842 (2021)
Allele C
OR 0.10
p 1.0e-8
N 5,257
Large GWAS
East Asian

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 5.0e-10
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 JMJD1C

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all JMJD1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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