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

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Locus annotations

Locus 44

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 rs12712135 2:102,930,948 G/A 0.46 996 0.684 0.034 4.4×10-76 1.320 8.3×10-76 1.3×10-57
IL-1 R4 cis Replication rs12712135 2:102,930,948 G/A 0.42 337 0.586 0.061 1.4×10-19 1.310 9.8×10-20 2.2×10-17

 

Regional association plots

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

Download the association data used to generate this plot

 

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 (rs12712135) and 72 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
  • IL1RL1 interleukin 1 receptor-like 1
  • IL18R1 interleukin 18 receptor 1
Potentially regulated genes
  • MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
  • IL18R1 interleukin 18 receptor 1
  • IL1RL1 interleukin 1 receptor-like 1
  • IL1R1 interleukin 1 receptor, type I
  • IL1R2 interleukin 1 receptor, type II
eQTL genes
  • IL18R1 interleukin 18 receptor 1
  • SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4
  • IL18RAP interleukin 18 receptor accessory protein
  • IL1RL1 interleukin 1 receptor-like 1

 

Results from other genome-wide association studies

Trait P Study Source
cg25869196 (chr2:102952443) 1.1×10-100 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of IL18R1 (probeID ILMN_1781700) in cerebellum in Alzheimer's disease cases and controls 7.3×10-52 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in temporal cortex in Alzheimer's disease cases and controls 9.3×10-50 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in temporal cortex in Alzheimer's disease cases and controls 4.2×10-45 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in temporal cortex in Alzheimer's disease cases and controls 1.7×10-42 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in cerebellum in Alzheimer's disease cases and controls 7.8×10-39 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in cerebellum in Alzheimer's disease cases and controls 3.6×10-34 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in cerebellum in non-Alzheimer's disease samples 6.4×10-28 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in temporal cortex in Alzheimer's disease cases 3×10-26 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in cerebellum in Alzheimer's disease cases 2.2×10-24 22685416 (PMID) GRASP2 eQTL
Leprosy 2×10-23 25642632 (PMID) GWAS Catalog via SNiPA
Gene expression of IL1RL1 (probeID ILMN_2313672) in temporal cortex in Alzheimer's disease cases 4.4×10-23 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in cerebellum in Alzheimer's disease cases 7.1×10-20 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in temporal cortex in Alzheimer's disease cases 2×10-19 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in cerebellum in non-Alzheimer's disease samples 8×10-19 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in cerebellum in Alzheimer's disease cases 3×10-17 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in cerebellum in non-Alzheimer's disease samples 4.8×10-17 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in cerebellum in Progressive Supranuclear Palsy cases 1.5×10-13 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in cerebellum in Progressive Supranuclear Palsy cases 6.2×10-13 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in cerebellum in Progressive Supranuclear Palsy cases 3.2×10-12 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in temporal cortex in Progressive Supranuclear Palsy cases 4×10-12 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18R1 (probeID ILMN_1781700) in temporal cortex in Progressive Supranuclear Palsy cases 2.7×10-10 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18RAP in blood 3×10-10 21829388 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in temporal cortex in Progressive Supranuclear Palsy cases 3.6×10-10 22685416 (PMID) GRASP2 eQTL
Inflammatory bowel disease 2.1×10-8 Supplemental file
Crohn's disease 3.3×10-8 Supplemental file
Gene expression of IL18R1 in blood 2.9×10-6 21829388 (PMID) GRASP2 eQTL
Celiac disease 1.1×10-5 20190752 (PMID) GRASP2 nonQTL
tryptophan 4.2×10-5 24816252 (PMID) gwas.eu via SNiPA
Ulcerative collitis 1.2×10-4 Supplemental file
Gene expression of IL18R1 (ENSG00000115604) in dendritic cells 1.3×10-4 22233810 (PMID) GRASP2 eQTL
Body mass index (BMI) and Blood urea nitrogen (BUN) 5×10-4 17903296 (PMID) GRASP2 nonQTL

New insight into the Interleukin-1 receptor cluster.

This locus harbours a replicated cis-pQTL to Interleukin-1 receptor-like 1 (IL1RL1). This locus also associates with sST2 in a GWAS (IL1RL1 codes for sST2) [PubMed] and with susceptibility to leprosy [PubMed] (see Locus 19 for association with IL18R1).

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.