HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 440

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GFRa-2 cis Discovery rs10503709 8:21,474,049 T/C 0.44 992 -0.287 0.043 5.4×10-11 -1.050 5.8×10-11 2.6×10-10
GFRa-2 cis Replication rs4739274 8:21,479,255 C/A 0.49 337 -0.145 0.058 0.012 -1.030 0.014 0.021

 

Regional association plots

GDNF family receptor alpha-2 (GFRa-2)

 

Boxplots and histograms for top associations

GDNF family receptor alpha-2 (GFRa-2)

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

GDNF family receptor alpha-2 (GFRa-2)

Target (abbrv.) GFRa-2
Target (full name) GDNF family receptor alpha-2
Somalogic ID (Sequence ID) SL004143 (2515-14_3)
Entrez Gene Symbol GFRA2
UniProt ID O00451
UniProt Comment
  • Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.
Reactome
  • NCAM1 interactions

All locus annotations are based on the sentinel SNP (rs10503709) and 93 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

Potentially regulated genes
  • NPM2 nucleophosmin/nucleoplasmin 2
  • FGF17 fibroblast growth factor 17
  • FAM160B2 family with sequence similarity 160, member B2
eQTL genes
  • GFRA2 GDNF family receptor alpha 2

 

Results from other genome-wide association studies

Trait P Study Source
erythronate* 4.1×10-5 24816252 (PMID) gwas.eu via SNiPA
Breast cancer risk (in BRCA1 mutation carriers) 1.2×10-4 20852631 (PMID) GRASP2 nonQTL
Schizophrenia 1.8×10-4 21926974 (PMID) Supplemental file
Bipolar disorder vs. Schizophrenia 2.8×10-4 24280982 (PMID) Supplemental file