Connecting genetic risk to disease endpoints through the human blood plasma proteome
ONLINE SUPPLEMENTARY INFORMATION
Locus 203
Top associations per target
| Target | cis/trans | Study | SNP | SNP location | Maj/min allele | MAF | N | βinv | seinv | Pinv | fclog | Plog | Praw |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Endothelin-converting enzyme 1 | trans | Discovery | rs4683702 | 3:142,617,138 | T/G | 0.37 | 995 | 0.397 | 0.043 | 2×10-19 | 1.080 | 1×10-18 | 1.2×10-17 |
| Endothelin-converting enzyme 1 | trans | Replication | rs4683702 | 3:142,617,138 | A/C | 0.16 | 337 | 0.355 | 0.089 | 8.3×10-5 | 1.090 | 1.2×10-4 | 5.2×10-5 |
Regional association plots
Endothelin-converting enzyme 1
Boxplots and histograms for top associations
Endothelin-converting enzyme 1
| Target (abbrv.) | Endothelin-converting enzyme 1 |
| Target (full name) | Endothelin-converting enzyme 1 |
| Somalogic ID (Sequence ID) | SL004060 (3611-70_4) |
| Entrez Gene Symbol | ECE1 |
| UniProt ID | P42892 |
| UniProt Comment |
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| Wiki Pathways |
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All locus annotations are based on the sentinel SNP (rs4683702) and 12 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 |
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| Potentially regulated genes |
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| eQTL genes |
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Results from other genome-wide association studies
| Trait | P | Study | Source |
|---|---|---|---|
| cg22826874 (chr3:142608242) | 3.1×10-38 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
| cg21129615 (chr3:142607823) | 5.3×10-27 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
| cg01537713 (chr3:142606794) | 5.1×10-17 | 10.1101/033084 (DOI) | BIOS QTL cis-meQTLs |
| 1-oleoylglycerophosphoethanolamine | 2.4×10-6 | 24816252 (PMID) | gwas.eu via SNiPA |
| Gene expression of PCOLCE2 in liver | 3.4×10-6 | 18462017 (PMID) | GRASP2 eQTL |
| Height | 5.3×10-6 | 25282103 (PMID) | Supplemental file |
| Total cholesterol | 4.7×10-4 | 20686565 (PMID) | GRASP2 nonQTL |
Possible link between cis-variants and protein levels of ECE1 and PCOLEC2 expression.
This locus harbours a replicated trans-pQTL to Endothelin-converting enzyme 1 (ECE1). ECE1 is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. This variant may impact PCOLCE2 (cis-eQTL). PCOLEC2 binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1. Possible common theme is proteolysis.
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.