HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 408

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-1 R4 cis Discovery rs3771167 2:102,986,188 A/G 0.10 996 0.436 0.063 1.1×10-11 1.190 1.5×10-11 2.2×10-9
IL-1 R4 cis Replication rs77763678 2:102,916,749 G/A 0.08 337 0.473 0.122 1.2×10-4 1.240 1.2×10-4 9.5×10-5

 

Regional association plots

Interleukin-1 receptor-like 1 (IL-1 R4)

 

Boxplots and histograms for top associations

Interleukin-1 receptor-like 1 (IL-1 R4)

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

Interleukin-1 receptor-like 1 (IL-1 R4)

Target (abbrv.) IL-1 R4
Target (full name) Interleukin-1 receptor-like 1
Somalogic ID (Sequence ID) SL004146 (4234-8_2)
Entrez Gene Symbol IL1RL1
UniProt ID Q01638
UniProt Comment
  • Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function.

All locus annotations are based on the sentinel SNP (rs3771167) and 32 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
Potentially regulated genes
  • IL1R1 interleukin 1 receptor, type I
  • IL1RL1 interleukin 1 receptor-like 1
  • IL18R1 interleukin 18 receptor 1
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL18RAP in blood 2.4×10-33 21829388 (PMID) GRASP2 eQTL
Serum protein levels (sST2) 2×10-30 23999434 (PMID) GWAS Catalog via SNiPA
cg19642470 (chr2:102868047) 1.2×10-15 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg23450938 (chr2:102972768) 1.5×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Met-PTC / PC ae C44:4 3.3×10-7 20037589 (PMID) GRASP2 metabQTL
Gene expression of IL18R1 in peripheral blood monocytes 5.2×10-7 20502693 (PMID) GRASP2 eQTL
"Gene expression of IL18R1 [transcript NM_003855, probe A_23_P39735] in liver" 3.3×10-6 21637794 (PMID) GRASP2 eQTL
Gene expression of IL18R1 in blood 9.1×10-6 21829388 (PMID) GRASP2 eQTL
cg05259891 (chr2:102866903) 5.8×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
1-oleoylglycerophosphoethanolamine 6.5×10-5 24816252 (PMID) gwas.eu via SNiPA
Met-PTC 1.6×10-4 20037589 (PMID) GRASP2 metabQTL