HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 116

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ASAH2 cis Discovery rs2842126 10:52,018,482 G/A 0.23 996 -0.601 0.048 5.7×10-34 -1.250 5.3×10-35 5.2×10-22
ASAH2 cis Replication rs2813299 10:52,017,680 A/G 0.39 337 -0.431 0.062 2.3×10-11 -1.280 1.7×10-11 0.006

 

Regional association plots

 

Boxplots and histograms for top associations

Neutral ceramidase (ASAH2)

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

Neutral ceramidase (ASAH2)

Target (abbrv.) ASAH2
Target (full name) Neutral ceramidase
Somalogic ID (Sequence ID) SL010375 (3212-30_3)
Entrez Gene Symbol ASAH2
UniProt ID Q9NR71
UniProt Comment
  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.
Reactome
  • Glycosphingolipid metabolism

All locus annotations are based on the sentinel SNP (rs2842126) and 21 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
  • DYNC1I2P1 dynein, cytoplasmic 1, intermediate chain 2 pseudogene 1
eQTL genes
  • FAM21A family with sequence similarity 21, member A

 

Results from other genome-wide association studies

No associations available.