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

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Locus annotations

Locus 436

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
annexin I cis Discovery rs4745216 9:75,744,157 C/A 0.04 995 0.773 0.116 5.2×10-11 1.170 4.7×10-11 2×10-11

 

Regional association plots

 

Boxplots and histograms for top associations

Annexin A1 (annexin I)

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

Annexin A1 (annexin I)

Target (abbrv.) annexin I
Target (full name) Annexin A1
Somalogic ID (Sequence ID) SL004208 (4960-72_1)
Entrez Gene Symbol ANXA1
UniProt ID P04083
UniProt Comment
  • Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity (PubMed:8425544). Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (By similarity). Promotes resolution of inflammation and wound healing (PubMed:25664854). Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades (PubMed:15187149, PubMed:25664854). Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors (PubMed:15187149). Contributes to the adaptive immune response by enhancing signaling cascades that are triggered by T-cell activation, regulates differentiation and proliferation of activated T-cells (PubMed:17008549). Promotes the differentiation of T-cells into Th1 cells and negatively regulates differentiation into Th2 cells (PubMed:17008549). Has no effect on unstimulated T cells (PubMed:17008549). Promotes rearrangement of the actin cytoskeleton, cell polarization and cell migration (PubMed:15187149). Negatively regulates hormone exocytosis via activation of the formyl peptide receptors and reorganization of the actin cytoskeleton (PubMed:19625660). Has high affinity for Ca(2+) and can bind up to eight Ca(2+) ions (By similarity). Displays Ca(2+)-dependent binding to phospholipid membranes (PubMed:2532504, PubMed:8557678). Plays a role in the formation of phagocytic cups and phagosomes. Plays a role in phagocytosis by mediating the Ca(2+)-dependent interaction between phagosomes and the actin cytoskeleton (By similarity).
Targeted by drugs (based on IPA annotation)
  • hydrocortisone
  • hydrocortisone/prednisone
  • hydrocortisone/mitoxantrone
Biomarker applications (based on IPA annotation)
  • diagnosis
  • prognosis
  • unspecified application
Wiki Pathways
  • Integrated Breast Cancer Pathway
  • Prostaglandin Synthesis and Regulation
Reactome
  • Formyl peptide receptors bind formyl peptides and many other ligands
  • G alpha (i) signalling events
  • G alpha (q) signalling events
  • Muscle contraction

All locus annotations are based on the sentinel SNP (rs4745216) and 20 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

Genes hit or close-by
Potentially regulated genes
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ANXA1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines 3.3×10-11 17873874 (PMID) GRASP2 eQTL
Schizophrenia, bipolar disorder and depression (combined) 3×10-6 20713499 (PMID) GWAS Catalog via SNiPA
Biploar disorder (bipolar II disorder) 3.3×10-6 20713499 (PMID) GRASP2 nonQTL
2-methoxyacetaminophen sulfate* 5.6×10-6 24816252 (PMID) gwas.eu via SNiPA