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

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Locus annotations

Locus 5

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
sLeptin R cis Discovery rs17415296 1:66,099,013 C/A 0.19 993 -1.400 0.033 4.5×10-229 -2.420 2×10-271 7.9×10-263
sLeptin R cis Replication rs4606347 1:66,073,361 G/A 0.16 337 -1.263 0.061 7×10-61 -2.110 1.2×10-90 5.7×10-58

 

Regional association plots

 

Boxplots and histograms for top associations

Leptin receptor (sLeptin R)

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

Leptin receptor (sLeptin R)

Target (abbrv.) sLeptin R
Target (full name) Leptin receptor
Somalogic ID (Sequence ID) SL003184 (5400-52_3)
Entrez Gene Symbol LEPR
UniProt ID P48357
UniProt Comment
  • Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:25060689, PubMed:12504075, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity).
Targeted by drugs (based on IPA annotation)
  • recombinant-methionyl human leptin
Biomarker applications (based on IPA annotation)
  • prognosis
Wiki Pathways
  • AMPK signaling
  • Leptin signaling pathway
Pathway Interaction Database
  • Signaling events mediated by PTP1B
Reactome
  • Signaling by Leptin

All locus annotations are based on the sentinel SNP (rs17415296) and 191 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
  • LEPR leptin receptor
Potentially regulated genes