HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 169

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Chitotriosidase-1 cis Discovery rs4950937 1:203,182,292 G/A 0.27 996 0.486 0.046 1.4×10-24 1.400 4.8×10-25 1.9×10-12
Chitotriosidase-1 cis Replication rs4950937 1:203,182,292 G/A 0.24 337 0.576 0.080 4×10-12 1.240 8.1×10-10 4.7×10-5

 

Regional association plots

 

Boxplots and histograms for top associations

Chitotriosidase-1

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

Chitotriosidase-1

Target (abbrv.) Chitotriosidase-1
Target (full name) Chitotriosidase-1
Somalogic ID (Sequence ID) SL006029 (3600-2_3)
Entrez Gene Symbol CHIT1
UniProt ID Q13231
UniProt Comment
  • Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.
Biomarker applications (based on IPA annotation)
  • efficacy

All locus annotations are based on the sentinel SNP (rs4950937) and 8 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
  • CHIT1 chitinase 1 (chitotriosidase)
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ADORA1///MYBPH in blood 4.2×10-17 21829388 (PMID) GRASP2 eQTL
Serum ratio of (3-methylxanthine)/(theobromine) 1×10-4 21886157 (PMID) GRASP2 metabQTL
Serum ratio of (phenyllactate (PLA))/(quinate) 2.5×10-4 21886157 (PMID) GRASP2 metabQTL