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

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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)

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
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