HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 421

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-17 sR cis Discovery rs5994176 22:17,618,164 C/G 0.34 993 -0.305 0.045 2.3×10-11 -1.100 8.1×10-11 1.4×10-4
IL-17 sR cis Replication rs5994175 22:17,618,142 C/A 0.33 337 -0.161 0.079 0.042 -1.050 0.067 0.435

 

Regional association plots

Interleukin-17 receptor A (IL-17 sR)

 

Boxplots and histograms for top associations

Interleukin-17 receptor A (IL-17 sR)

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

Interleukin-17 receptor A (IL-17 sR)

Target (abbrv.) IL-17 sR
Target (full name) Interleukin-17 receptor A
Somalogic ID (Sequence ID) SL004850 (2992-59_2)
Entrez Gene Symbol IL17RA
UniProt ID Q96F46
UniProt Comment
  • Receptor for IL17A (PubMed:17911633, PubMed:9367539). Receptor for IL17F (PubMed:19838198, PubMed:17911633). Binds to IL17A with higher affinity than to IL17F (PubMed:17911633). Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC (PubMed:16785495). Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC (PubMed:18684971). Receptor for IL17C as part of a heterodimeric complex with IL17RE (PubMed:21993848). Activation of IL17RA leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1, CXCL8/IL8 and IL6 (PubMed:16785495, PubMed:17911633, PubMed:18684971).

All locus annotations are based on the sentinel SNP (rs5994176) and 2 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
eQTL genes
  • CECR6 cat eye syndrome chromosome region, candidate 6

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of NBPF1 in peripheral blood monocytes 3.1×10-6 20502693 (PMID) GRASP2 eQTL
Resistance to kuru in aged women despite likely exposure 2.9×10-4 22210626 (PMID) GRASP2 nonQTL