rs7522061

This is a protein-altering variant in the FCRL3 gene.

GWAS Catalog Trait Associations (5)

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

Fc receptor-like protein 3 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 0.81
p
N 10,708
Large GWAS
European
Allele T
OR 0.68
p 5.0e-57
N 997
Small GWAS
multi-ancestry

blood protein amount

Emilsson V et al. Co-regulatory networks of human serum proteins link genetics to disease. Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 0.68
p 7.0e-182
N 3,200
Large GWAS
European

hypothyroidism

Allele C
OR 0.04
p 2.0e-31
N 2,444,128
Large GWAS
multi-ancestry

blood immunoglobulin amount

Allele C
OR 0.11
p 2.0e-17
N 60,225
Large GWAS
East Asian

Research that mentions this SNP (1)

Genetic association of zinc transporter 8 (ZnT8) autoantibodies in type 1 diabetes cases
AssociationN=3,094Howson JM et al.(2012)· Diabetologia

This genome-wide association study identifies genetic loci associated with zinc transporter 8 autoantibodies (ZnT8A) positivity in 2,239 type 1 diabetes cases. The FCRL3 locus on chromosome 1 (rs7522061 T>C, p=1.13×10⁻¹⁶, OR=1.82) and HLA class I region (rs9258750 A>G, p=2.06×10⁻⁹) show strong associations with ZnT8A. The SLC30A8 rs13266634 (R325W) shows epitope-specific associations: strong association with ZnT8WA (p=9.26×10⁻²⁷) and negative association with ZnT8RA (p=7.20×10⁻¹⁷). Notably, these ZnT8A-associated loci do not alter type 1 diabetes risk, indicating ZnT8A is a downstream biomarker rather than primary pathogenic factor.

Traits studied:Type 1 diabetesZinc transporter 8 autoantibodies (ZnT8A)ZnT8RA autoantibodiesZnT8WA autoantibodies

About FCRL3

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all FCRL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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