HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 83

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 rs4859571 4:76,857,309 C/T 0.24 997 -0.705 0.047 1.1×10-46 -1.360 3.3×10-44 7×10-25
ASAHL cis Replication rs2242470 4:76,878,688 G/A 0.17 337 -0.523 0.088 6.9×10-9 -1.280 2.6×10-8 9.1×10-6

 

Regional association plots

N-acylethanolamine-hydrolyzing acid amidase (ASAHL)

 

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
Replication 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 (rs4859571) and 61 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
  • NAAA N-acylethanolamine acid amidase
  • CCDC158 coiled-coil domain containing 158
  • NUP54 nucleoporin 54kDa
  • USO1 USO1 vesicle transport factor
eQTL genes
  • ART3 ADP-ribosyltransferase 3
  • NAAA N-acylethanolamine acid amidase
  • CXCL10 chemokine (C-X-C motif) ligand 10
  • CXCL11 chemokine (C-X-C motif) ligand 11
  • CXCL9 chemokine (C-X-C motif) ligand 9
  • SCARB2 scavenger receptor class B, member 2

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ASAHL in peripheral blood monocytes 9.7×10-31 20502693 (PMID) GRASP2 eQTL
Gene expression of NAAA in blood 8.1×10-29 21829388 (PMID) GRASP2 eQTL
Gene expression of NAAA [probe 214765_s_at] in lymphoblastoid cell lines 2.1×10-22 17873877 (PMID) GRASP2 eQTL
Gene expression of NAAA [probe 227135_at] in lymphoblastoid cell lines 2.5×10-21 17873877 (PMID) GRASP2 eQTL
Gene expression of ASAHL in lymphoblastoid cell lines 2×10-20 17873877 (PMID) GRASP2 eQTL
Gene expression of CXCL10 [probe 204533_at] in lymphoblastoid cell lines 2.4×10-18 17873877 (PMID) GRASP2 eQTL
Gene expression of CXCL10 in lymphoblastoid cell lines 2.7×10-17 17873877 (PMID) GRASP2 eQTL
Gene expression of NAAA in liver 2.9×10-15 21637794 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2391512) in cerebellum in Alzheimer's disease cases and controls 2.1×10-12 22685416 (PMID) GRASP2 eQTL
Gene expression of ASAHL in liver 2.9×10-11 18462017 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2285568) in breast tumors 3.9×10-11 22522925 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_1668605) in cerebellum in Alzheimer's disease cases and controls 3.8×10-10 22685416 (PMID) GRASP2 eQTL
Gene expression of ASAHL in CEU-CHB-JPT-YRI lymphoblastoid cell lines 1.3×10-9 17873874 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2285568) in temporal cortex in Alzheimer's disease cases and controls 5.9×10-9 22685416 (PMID) GRASP2 eQTL
Gene expression of ASAHL in CEU lymphoblastoid cell lines 3.1×10-8 17873874 (PMID) GRASP2 eQTL
Gene expression of NAAA in Lymphoblastoid cell lines 1.6×10-7 19644074 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_2391512) in temporal cortex in Alzheimer's disease cases and controls 3.2×10-7 22685416 (PMID) GRASP2 eQTL
Gene expression of NAAA [probeset 214765_s_at] in sputum 5.9×10-7 21949713 (PMID) GRASP2 eQTL
Gene expression of NAAA (probeID ILMN_1668605) in temporal cortex in Alzheimer's disease cases and controls 1.1×10-6 22685416 (PMID) GRASP2 eQTL
Gene expression of CXCL11 [probe ILMN_17824] in osteoblasts with treatment interaction 1.3×10-6 21283786 (PMID) GRASP2 eQTL
Aging 5.1×10-6 22445811 (PMID) GRASP2 nonQTL
Differential exon level expression of ASAHL [probe 2773895] in peripheral blood mononuclear cells 5.7×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of SDAD1 in blood 6.3×10-6 21829388 (PMID) GRASP2 eQTL
Gene expression of SLC6A20 in peripheral blood monocytes 9.2×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of CXCL10 in Lymphoblastoid cell lines 1.4×10-5 19644074 (PMID) GRASP2 eQTL
Heart rate variability - TP - total power 1.5×10-5 17903306 (PMID) GRASP2 nonQTL
Heart rate 1.5×10-5 pha001394 (dbGaP) dbGaP via SNiPA
Inflammatory bowel disease 3.7×10-5 Supplemental file
Gene expression of NAAA (probeID ILMN_2285568) in cerebellum in Alzheimer's disease cases and controls 4.6×10-5 22685416 (PMID) GRASP2 eQTL
Autism 1.1×10-4 20663923 (PMID) GRASP2 nonQTL
Serum ratio of (1-eicosadienoylglycerophosphocholine*)/(1-myristoylglycerophosphocholine) 1.1×10-4 21886157 (PMID) GRASP2 metabQTL
Serum concentration of guanosine 1.3×10-4 21886157 (PMID) GRASP2 metabQTL
Gene expression of ASAHL [probe 2773872] in peripheral blood mononuclear cells 1.6×10-4 19222302 (PMID) GRASP2 eQTL
Gene expression of NAAA (ENSG00000138744) in dendritic cells 1.7×10-4 22233810 (PMID) GRASP2 eQTL
Gene expression of NAAA in normal prepouch ileum 1.9×10-4 23474282 (PMID) GRASP2 eQTL
Gene expression of NAAA [probeset 227135_at] in sputum 2.5×10-4 21949713 (PMID) GRASP2 eQTL
Crohn's disease 3×10-4 Supplemental file
Autism with verbal ability 3.3×10-4 20663923 (PMID) GRASP2 nonQTL