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WCMC

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

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Locus annotations

Locus 337

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ASAHL cis Discovery rs1513890 4:76,835,364 C/A 0.05 994 0.774 0.104 1.8×10-13 1.420 1×10-13 8.3×10-13

 

Regional association plots

N-acylethanolamine-hydrolyzing acid amidase (ASAHL)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

N-acylethanolamine-hydrolyzing acid amidase (ASAHL)

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

N-acylethanolamine-hydrolyzing acid amidase (ASAHL)

Target (abbrv.) ASAHL
Target (full name) N-acylethanolamine-hydrolyzing acid amidase
Somalogic ID (Sequence ID) SL008611 (3173-49_2)
Entrez Gene Symbol NAAA
UniProt ID Q02083
UniProt Comment
  • Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N-palmitoylethanolamine > N-myristoylethanolamine > N-lauroylethanolamine = N-stearoylethanolamine > N-arachidonoylethanolamine > N-oleoylethanolamine. Also exhibits weak hydrolytic activity against the ceramides N-lauroylsphingosine and N-palmitoylsphingosine.

All locus annotations are based on the sentinel SNP (rs1513890) and 60 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
  • NAAA N-acylethanolamine acid amidase
Potentially regulated genes
  • ART3 ADP-ribosyltransferase 3
  • CXCL9 chemokine (C-X-C motif) ligand 9
  • SDAD1 SDA1 domain containing 1
eQTL genes
  • PPEF2 protein phosphatase, EF-hand calcium binding domain 2
  • NAAA N-acylethanolamine acid amidase
  • CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase)

 

Results from other genome-wide association studies

Trait P Study Source
Type 2 diabetes, combined control dataset, gender differentiated 8.3×10-5 17554300 (PMID) GRASP2 nonQTL