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WCMC

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

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Locus annotations

Locus 252

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ARSB cis Discovery rs672413 5:78,278,229 G/A 0.35 996 0.369 0.045 3.6×10-16 1.090 2.9×10-5 0.649
ARSB cis Replication rs672413 5:78,278,229 G/A 0.48 337 0.091 0.078 0.243 1.020 0.484 0.825

 

Regional association plots

 

Boxplots and histograms for top associations

Arylsulfatase B (ARSB)

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

Arylsulfatase B (ARSB)

Target (abbrv.) ARSB
Target (full name) Arylsulfatase B
Somalogic ID (Sequence ID) SL008956 (3172-28_2)
Entrez Gene Symbol ARSB
UniProt ID P15848
UniProt Comment
  • Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).
Reactome
  • CS/DS degradation
  • Glycosphingolipid metabolism
  • MPS VI - Maroteaux-Lamy syndrome
  • The activation of arylsulfatases

All locus annotations are based on the sentinel SNP (rs672413) and 1 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
  • ARSB arylsulfatase B
eQTL genes
  • ARSB arylsulfatase B
  • BHMT betaine--homocysteine S-methyltransferase

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ARSB in liver 3.7×10-20 21637794 (PMID) GRASP2 eQTL
Blood and toenail selenium levels 5×10-14 25343990 (PMID) GWAS Catalog via SNiPA
betaine 2.7×10-5 24816252 (PMID) gwas.eu via SNiPA