rs514716

This variant is located in the GLIS3 gene.

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GWAS Catalog Trait Associations (3)

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

Alzheimer disease, p-tau measurement

Cruchaga C et al. “GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.” Neuron 78(2):256-68 (2013)
Allele G
OR —
β 0.072
p 3.0e-9
N 1,278
Large GWAS
European

Alzheimer disease, t-tau measurement

Cruchaga C et al. “GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.” Neuron 78(2):256-68 (2013)
Allele G
OR —
β 0.071
p 1.0e-8
N 1,278
Large GWAS
European

p-tau measurement

Deming Y et al. “Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.” Acta Neuropathologica 133(5):839-856 (2017)
Allele C
OR 0.05
p 3.0e-8
N 3,146
Large GWAS
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Research that mentions this SNP (1)

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Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation
ReviewJohn S. K. Kauwe et al.(2007)· Annals of Neurology

A review of genetic discoveries in Alzheimer's disease using cerebrospinal fluid (CSF) levels of amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau181) as endophenotypes. The paper discusses multiple GWAS and sequencing studies that identified novel AD risk variants including rs9877502 (3q28, p=4.89×10⁻⁹), rs514716 in GLIS3 (p=1.07×10⁻⁸), and rs6922617 in TREM cluster (p=3.58×10⁻⁸), as well as functional characterization of known AD variants including APOE, MAPT, and TREM2. The review emphasizes the increased statistical power of using quantitative CSF biomarkers compared to traditional case-control designs.

Traits studied:AD progression rateAlzheimer's diseaseAmyloid depositionCerebrospinal fluid amyloid-beta 42 levelsCerebrospinal fluid phosphorylated tau (pTau181) levelsCerebrospinal fluid tau levelsCognitive declineTau pathology
PubMedDOIMetascience Observatory

About GLIS3

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]

View all GLIS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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