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

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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)

Download the association data used to generate this plot

 

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


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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