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WCMC

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

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Locus annotations

Locus 227

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ART cis Discovery rs7184253 16:67,380,550 T/C 0.05 997 0.821 0.093 6.7×10-18 1.210 3.8×10-16 1.1×10-11
ART cis Replication rs8056260 16:67,476,572 A/G 0.16 337 0.135 0.084 0.108 1.050 0.102 0.199

 

Regional association plots

 

Boxplots and histograms for top associations

Agouti-related protein (ART)

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

Agouti-related protein (ART)

Target (abbrv.) ART
Target (full name) Agouti-related protein
Somalogic ID (Sequence ID) SL006924 (2813-11_2)
Entrez Gene Symbol AGRP
UniProt ID O00253
UniProt Comment
  • Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner.
Biomarker applications (based on IPA annotation)
  • unspecified application
Pathway Interaction Database
  • Syndecan-3-mediated signaling events

All locus annotations are based on the sentinel SNP (rs7184253) and 114 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
  • SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5
  • PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4
  • KCTD19 potassium channel tetramerization domain containing 19
  • RN7SKP118 RNA, 7SK small nuclear pseudogene 118
  • LRRC36 leucine rich repeat containing 36
  • TPPP3 tubulin polymerization-promoting protein family member 3
  • RNU1-123P RNA, U1 small nuclear 123, pseudogene
  • ZDHHC1 zinc finger, DHHC-type containing 1
  • RP11-297D21.2
  • HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
  • ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
  • RP11-297D21.4
  • AGRP agouti related neuropeptide
  • FAM65A family with sequence similarity 65, member A
  • CTD-2012K14.8
Potentially regulated genes
  • EXOC3L1 exocyst complex component 3-like 1
  • CES4A carboxylesterase 4A
  • HSF4 heat shock transcription factor 4
  • TPPP3 tubulin polymerization-promoting protein family member 3
  • ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
  • EDC4 enhancer of mRNA decapping 4
  • ELMO3 engulfment and cell motility 3
  • HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
  • FBXL8 F-box and leucine-rich repeat protein 8
  • LCAT lecithin-cholesterol acyltransferase
  • CBFB core-binding factor, beta subunit
  • FAM65A family with sequence similarity 65, member A
  • ZDHHC1 zinc finger, DHHC-type containing 1
  • C16orf70 chromosome 16 open reading frame 70
  • NUTF2 nuclear transport factor 2
  • C16orf86 chromosome 16 open reading frame 86
  • GFOD2 glucose-fructose oxidoreductase domain containing 2
  • TRADD TNFRSF1A-associated via death domain
  • SLC12A4 solute carrier family 12 (potassium/chloride transporter), member 4
eQTL genes
  • RANBP10 RAN binding protein 10
  • LRRC36 leucine rich repeat containing 36
  • DPEP2 dipeptidase 2
  • ZDHHC1 zinc finger, DHHC-type containing 1
  • HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
  • C16orf86 chromosome 16 open reading frame 86
  • TRADD TNFRSF1A-associated via death domain
  • AGRP agouti related neuropeptide
  • DUS2 dihydrouridine synthase 2
  • ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
  • PLA2G15 phospholipase A2, group XV
  • LCAT lecithin-cholesterol acyltransferase
  • NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
  • CTCF CCCTC-binding factor (zinc finger protein)
  • EXOC3L1 exocyst complex component 3-like 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of DUS2L in peripheral blood monocytes 4.8×10-44 20502693 (PMID) GRASP2 eQTL
Gene expression of AGRP in peripheral blood monocytes 2.5×10-19 20502693 (PMID) GRASP2 eQTL
Gene expression of ATP6V0D1 in peripheral blood monocytes 6.1×10-15 20502693 (PMID) GRASP2 eQTL
Gene expression of ZDHHC1 in peripheral blood monocytes 9.6×10-13 20502693 (PMID) GRASP2 eQTL
Gene expression of TRADD in peripheral blood monocytes 8.8×10-11 20502693 (PMID) GRASP2 eQTL
Gene expression of SLC7A6 in peripheral blood monocytes 7.4×10-10 20502693 (PMID) GRASP2 eQTL
Height 1.4×10-9 25282103 (PMID) Supplemental file
Waist circumfence, adjusted for BMI 2.5×10-8 25673412 (PMID) Supplemental file
Gene expression of GFOD2 in peripheral blood monocytes 3.6×10-8 20502693 (PMID) GRASP2 eQTL
Waist-to-hip ratio, adjusted for BMI 5.5×10-6 25673412 (PMID) Supplemental file
Myopia 1.1×10-5 23468642 (PMID) GRASP2 nonQTL
Bipolar disorder, combined control dataset 3×10-5 17554300 (PMID) GRASP2 nonQTL