HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 390

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PDE5A cis Discovery rs4834770 4:120,241,849 G/A 0.43 995 -0.314 0.045 3.6×10-12 -1.100 1.8×10-9 3×10-11
PDE5A cis Replication rs4834770 4:120,241,849 G/A 0.41 337 -0.058 0.045 0.201 -1.030 0.437 0.051

 

Regional association plots

cGMP-specific 3',5'-cyclic phosphodiesterase (PDE5A)

 

Boxplots and histograms for top associations

cGMP-specific 3',5'-cyclic phosphodiesterase (PDE5A)

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

cGMP-specific 3',5'-cyclic phosphodiesterase (PDE5A)

Target (abbrv.) PDE5A
Target (full name) cGMP-specific 3',5'-cyclic phosphodiesterase
Somalogic ID (Sequence ID) SL011405 (5256-86_3)
Entrez Gene Symbol PDE5A
UniProt ID O76074
UniProt Comment
  • Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:9714779, PubMed:15489334). Specifically regulates nitric-oxide-generated cGMP (PubMed:15489334).
Targeted by drugs (based on IPA annotation)
  • dyphylline
  • nitroglycerin
  • udenafil
  • avanafil
  • aspirin/dipyridamole/telmisartan
  • aminophylline
  • sildenafil
  • dipyridamole
  • aspirin/dipyridamole
  • vardenafil
  • tolbutamide
  • tadalafil
  • theophylline
  • pentoxifylline
Biomarker applications (based on IPA annotation)
  • diagnosis
UniPathway
  • 3',5'-cyclic GMP degradation
Reactome
  • cGMP effects
Pathway Studio
  • ADRB1/3 → vasodilation
  • Summarized vascular motility pathway

All locus annotations are based on the sentinel SNP (rs4834770) and 11 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
  • C4orf3 chromosome 4 open reading frame 3
  • FABP2 fatty acid binding protein 2, intestinal
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg05550861 (chr4:120222198) 2.2×10-70 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg10183150 (chr4:120222263) 2.5×10-65 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg09350414 (chr4:120222169) 2.6×10-32 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of LOC100128460 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC100133177 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC349114 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC388312 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC399744 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC441124 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC729021 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC729218 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC729660 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of LOC730235 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of tcag7.907 [probe 231821_x_at] in lymphoblastoid cell lines 5.7×10-15 17873877 (PMID) GRASP2 eQTL
Gene expression of ENST00000296496 in blood 2×10-11 21829388 (PMID) GRASP2 eQTL
2-aminobutyrate 8.2×10-5 24816252 (PMID) gwas.eu via SNiPA
Gene expression of USP53 [probe 2741236] in peripheral blood mononuclear cells 2.1×10-4 19222302 (PMID) GRASP2 eQTL