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WCMC

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

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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)

Download the association data used to generate this plot

 

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


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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