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

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Locus annotations

Locus 65

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-17E trans Discovery rs692804 11:120,099,368 C/T 0.13 995 1.011 0.060 1.1×10-56 1.270 2.3×10-25 0.006
IL-17E trans Replication rs2508490 11:120,099,679 A/G 0.37 337 0.735 0.067 5.3×10-24 1.160 2.7×10-6 0.9

 

Regional association plots

 

Boxplots and histograms for top associations

Interleukin-25 (IL-17E)

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

Interleukin-25 (IL-17E)

Target (abbrv.) IL-17E
Target (full name) Interleukin-25
Somalogic ID (Sequence ID) SL004351 (4137-57_2)
Entrez Gene Symbol IL25
UniProt ID Q9H293
UniProt Comment
  • Induces activation of NF-kappa-B and stimulates production of the proinflammatory chemokine IL-8. Proinflammatory cytokine favoring Th2-type immune responses.

All locus annotations are based on the sentinel SNP (rs692804) and 7 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
  • OAF OAF homolog (Drosophila)
Potentially regulated genes
  • OAF OAF homolog (Drosophila)
  • CTD-2523D13.2
  • ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
  • TMEM136 transmembrane protein 136
  • TRIM29 tripartite motif containing 29
  • POU2F3 POU class 2 homeobox 3
  • PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
eQTL genes
  • POU2F3 POU class 2 homeobox 3

 

Results from other genome-wide association studies

Trait P Study Source
Psoriasis 2.7×10-6 19169255 (PMID) GRASP2 nonQTL
Partial epilepsy 4.2×10-4 20522523 (PMID) GRASP2 nonQTL

OAF may regulate IL25.

This locus harbours a replicated trans-association with Interleukin-25 (IL25, aka IL-17E). Imputed data suggests coding SNP rs2508490 (R217H) in Drosophila Out at first Homolog (OAF) as a likely causative variant. In drosophila, OAF is vital for proper neuronal development and hatching, little is known about the function of OAF in humans. Our data suggests that genetic variation in OAF modifies IL25 protein expression.

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.