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

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Locus annotations

Locus 89

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-17 RD cis Discovery rs1463657 3:57,137,461 A/C 0.33 996 0.617 0.043 1.4×10-42 1.110 4.9×10-16 1.4×10-4
IL-17 RD cis Replication rs6780995 3:57,138,419 A/G 0.35 337 0.447 0.065 2.9×10-11 1.100 1.5×10-5 0.031

 

Regional association plots

Interleukin-17 receptor D (IL-17 RD)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Interleukin-17 receptor D (IL-17 RD)

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

Interleukin-17 receptor D (IL-17 RD)

Target (abbrv.) IL-17 RD
Target (full name) Interleukin-17 receptor D
Somalogic ID (Sequence ID) SL010613 (3376-49_2)
Entrez Gene Symbol IL17RD
UniProt ID Q8NFM7
UniProt Comment
  • Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity).
Pathway Interaction Database
  • FGF signaling pathway
Reactome
  • Signaling by FGFR1
  • Signaling by FGFR2
  • Signaling by FGFR3
  • Signaling by FGFR4

All locus annotations are based on the sentinel SNP (rs1463657) and 8 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
  • IL17RD interleukin 17 receptor D
eQTL genes
  • FLNB filamin B, beta
  • ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3

 

Results from other genome-wide association studies

Trait P Study Source
cg00770158 (chr3:57134604) 1.7×10-32 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Major depressive disorder 1.2×10-4 22472876 (PMID) Supplemental file