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.
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
blood protein amount
hypothyroidism
Graves disease
blood immunoglobulin amount
▶Research that mentions this SNP (1)
▶Genetic association of zinc transporter 8 (ZnT8) autoantibodies in type 1 diabetes casesAssociationN=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.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…