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WCMC

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

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Locus annotations

Locus 214

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Spondin-1 cis Discovery rs10832169 11:14,066,486 A/G 0.50 997 -0.361 0.040 8.7×10-19 -1.060 4.1×10-15 1.2×10-8
Spondin-1 cis Replication rs10832169 11:14,066,486 G/A 0.47 337 0.340 0.056 2.7×10-9 1.080 1.3×10-8 3×10-9

 

Regional association plots

 

Boxplots and histograms for top associations

Spondin-1

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

Spondin-1

Target (abbrv.) Spondin-1
Target (full name) Spondin-1
Somalogic ID (Sequence ID) SL005115 (4297-62_3)
Entrez Gene Symbol SPON1
UniProt ID Q9HCB6
UniProt Comment
  • Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.
Reactome
  • O-glycosylation of TSR domain-containing proteins

All locus annotations are based on the sentinel SNP (rs10832169) and 35 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
  • SPON1 spondin 1, extracellular matrix protein
Potentially regulated genes
eQTL genes
  • SPON1 spondin 1, extracellular matrix protein

 

Results from other genome-wide association studies

Trait P Study Source
"Gene expression of SPON1 [transcript NM_006108, probe A_32_P133072] in liver" 2×10-16 21637794 (PMID) GRASP2 eQTL
Height 4.4×10-6 25282103 (PMID) Supplemental file
Nicotine dependence (smoking), smoking cessation (nicotine replacement therapy) 2.2×10-5 18519826 (PMID) GRASP2 nonQTL
Bipolar disorder and schizophrenia 2.3×10-5 20889312 (PMID) GRASP2 nonQTL
Type 1 diabetes, combined control dataset, gender differentiated 2.6×10-5 17554300 (PMID) GRASP2 nonQTL