HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 446

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 rs8051517 16:68,428,089 T/C 0.06 996 0.567 0.086 6.9×10-11 1.150 2×10-10 4.1×10-8
ART cis Replication rs74024437 16:68,326,247 G/A 0.07 337 0.264 0.115 0.023 1.100 0.018 0.038

 

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 (rs8051517).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
eQTL genes
  • TRADD TNFRSF1A-associated via death domain
  • DUS2 dihydrouridine synthase 2
  • ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of DUS2L in peripheral blood monocytes 1.8×10-13 20502693 (PMID) GRASP2 eQTL
Gene expression of ATP6V0D1 in peripheral blood monocytes 1.7×10-12 20502693 (PMID) GRASP2 eQTL
Gene expression of DCDC5 in peripheral blood monocytes 7×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of TRADD in peripheral blood monocytes 1.2×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of MRPL11 in peripheral blood monocytes 2.5×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of ECHS1 in peripheral blood monocytes 3.7×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of ZDHHC1 in peripheral blood monocytes 5.4×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of RPS3 in peripheral blood monocytes 6.1×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of MSRB2 in peripheral blood monocytes 7.8×10-6 20502693 (PMID) GRASP2 eQTL
Height 5.8×10-5 25282103 (PMID) Supplemental file