rs385076

This variant is located in the NLRC4 gene.

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GWAS Catalog Trait Associations (3)

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

interleukin 18 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.19
p 6.0e-281
N 47,745
Large GWAS
European
Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele C
OR 0.20
p 1.0e-101
N 21,758
Large GWAS
European
Zhao JH et al. “Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.” Nature Immunology 24(9):1540-1551 (2023)
Allele C
OR 0.19
p 2.0e-51
N 14,744
Large GWAS
multi-ancestry
Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)
Allele C
OR 0.24
p 2.0e-22
N 3,636
Large GWAS
European
Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)
Allele C
OR 0.10
p 1.0e-13
N 2,151
Major Consortium StudyLarge GWAS
European

level of heme oxygenase 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 4.0e-150
N 47,745
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.18
p 1.0e-39
N 10,708
Large GWAS
European
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Research that mentions this SNP (1)

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The association of NLRP3 and TNFRSF1A polymorphisms with risk of ankylosing spondylitis and treatment efficacy of etanercept
FunctionalN=100Shengchun Zhao et al.(2017)· Journal of Clinical Laboratory Analysis

This case-control study of 50 ankylosing spondylitis (AS) patients and 50 controls investigated NLRC4 inflammasome-mediated pyroptosis in AS pathogenesis. The study found significantly elevated mRNA levels of NLRC4, CASP1, and GSDMD-N in patient peripheral blood mononuclear cells (PBMCs), with GSDMD-N showing promising diagnostic potential (AUC=0.791). NLRC4 and CASP1 expression positively correlated with disease activity markers (ASDAS, ESR, patient global assessment), and bioinformatics analysis confirmed NLRC4-mediated pyroptosis involvement. Lentiviral NLRC4 overexpression in THP-1 cells increased CASP1 and GSDMD-N expression, supporting a mechanistic role for the NLRC4-CASP1-GSDMD-N axis in AS development.

Traits studied:Ankylosing spondylitis
PubMedDOIMetascience Observatory

About NLRC4

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

View all NLRC4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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