rs945635

This variant is located in the FCRL3 gene.

▶

GWAS Catalog Trait Associations (4)

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

hypothyroidism

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 6.0e-15
N 441,274
Major Consortium StudyLarge GWAS
European

thyroid disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 1.0e-13
N 315,668
Major Consortium StudyLarge GWAS
European

thyroid disease, drug use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 2.0e-11
N 315,668
Major Consortium StudyLarge GWAS
European

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele G
OR 0.12
p 2.0e-8
N 24,510
Meta-analysisLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
The FCRL3 −169CT promoter single‐nucleotide polymorphism, which is associated with systemic lupus erythematosus in a Japanese population, predicts expression of receptor protein on CD19+ B cells
AssociationN=2,650Andrew W. Gibson et al.(2009)· Arthritis &amp; Rheumatism

The FCRL3 -169C>T SNP (rs7528684) in the promoter region of the FCRL3 gene shows a dose-dependent effect on FCRL3 protein expression in B cells, with CC homozygotes expressing significantly higher levels than TT homozygotes (p < 0.0001) in both healthy donors and SLE patients. However, in contrast to prior association in Japanese populations, meta-analysis of four published studies found no significant association between this SNP and SLE in European Americans (N=2,220, OR=1.0478, p=0.45) or pan-Asian groups (N=4,267, OR=1.0616, p=0.412), suggesting ethnic-specific genetic effects.

Traits studied:Autoimmune disordersRheumatoid arthritis (RA)Systemic lupus erythematosus (SLE)
PubMedDOIMetascience Observatory

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…