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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 240

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
FCG2A/B cis Discovery rs6668534 1:161,671,995 A/G 0.23 994 -0.434 0.051 6×10-17 -1.320 5.5×10-18 3.5×10-17
FCG2A/B cis Replication rs1340976 1:161,661,489 A/C 0.22 337 -0.062 0.093 0.502 -1.050 0.373 0.37

 

Regional association plots

Low affinity immunoglobulin gamma Fc region receptor II-a/b (FCG2A/B)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Low affinity immunoglobulin gamma Fc region receptor II-a/b (FCG2A/B)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Low affinity immunoglobulin gamma Fc region receptor II-a/b (FCG2A/B)

Target (abbrv.) FCG2A/B
Target (full name) Low affinity immunoglobulin gamma Fc region receptor II-a/b
Somalogic ID (Sequence ID) SL017613 (3310-62_1)
Entrez Gene Symbol FCGR2A
UniProt ID P12318, P31994
UniProt Comment
  • P12318: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
  • P31994: Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis.
Pathway Interaction Database
  • BCR signaling pathway
  • Fc-epsilon receptor I signaling in mast cells
Reactome
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • T-cell-Independent B-cell Activation

All locus annotations are based on the sentinel SNP (rs6668534) and 6 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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Genes hit or close-by
eQTL genes
  • FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
  • FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
  • FCRLB Fc receptor-like B
  • FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
  • FCRLA Fc receptor-like A
  • HSPA7 heat shock 70kDa protein 7 (HSP70B)
  • HSPA6 heat shock 70kDa protein 6 (HSP70B')

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of FCGR2B in peripheral blood monocytes 4.3×10-39 20502693 (PMID) GRASP2 eQTL
Gene expression of FCRLB in peripheral blood monocytes 9.1×10-23 20502693 (PMID) GRASP2 eQTL
Gene expression of HSPA6 in peripheral blood monocytes 1.5×10-14 20502693 (PMID) GRASP2 eQTL
Gene expression of FCRLB in blood 4.7×10-8 21829388 (PMID) GRASP2 eQTL
Gene expression of FCGR2B (ENSG00000072694) in dendritic cells 9.6×10-6 22233810 (PMID) GRASP2 eQTL
Gene expression of FCRLB (ENSG00000162746) in dendritic cells 3.9×10-4 22233810 (PMID) GRASP2 eQTL