HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 445

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-17B R cis Discovery rs4453827 3:53,750,084 T/C 0.24 995 0.333 0.050 6.4×10-11 1.130 2×10-8 0.157
IL-17B R cis Replication rs6800641 3:53,770,588 A/G 0.21 337 -0.026 0.087 0.769 -1.000 0.999 0.877

 

Regional association plots

interleukin-17 receptor B (IL-17B R)

 

Boxplots and histograms for top associations

interleukin-17 receptor B (IL-17B R)

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

interleukin-17 receptor B (IL-17B R)

Target (abbrv.) IL-17B R
Target (full name) interleukin-17 receptor B
Somalogic ID (Sequence ID) SL005174 (5084-154_3)
Entrez Gene Symbol IL17RB
UniProt ID Q9NRM6
UniProt Comment
  • Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells.

All locus annotations are based on the sentinel SNP (rs4453827) and 24 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
  • CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
Potentially regulated genes
  • DCP1A decapping mRNA 1A
eQTL genes
  • CHDH choline dehydrogenase
  • IL17RB interleukin 17 receptor B

 

Results from other genome-wide association studies

Trait P Study Source
cg13411554 (chr3:53700252) 8.4×10-12 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg15417641 (chr3:53700117) 5.6×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14843888 (chr3:53530223) 6.9×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Body mass index 4.9×10-6 25673413 (PMID) Supplemental file
cg17184165 (chr3:53855953) 5.7×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Serum ratio of (choline)/(glycerol 2-phosphate) 5×10-5 21886157 (PMID) GRASP2 metabQTL
cg19128261 (chr3:53839275) 7.8×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Serum ratio of (3-hydroxybutyrate (BHBA))/(hydroquinone sulfate) 4.7×10-4 21886157 (PMID) GRASP2 metabQTL
Bipolar disorder 4.8×10-4 21926972 (PMID) Supplemental file