HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

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