HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 20

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 rs12141375 1:203,181,362 C/A 0.20 996 -0.990 0.039 9.3×10-108 -2.090 1.6×10-135 1×10-33
Chitotriosidase-1 cis Replication rs12141375 1:203,181,362 C/A 0.34 337 -0.880 0.064 3.1×10-34 -1.390 3.8×10-26 6.1×10-12

 

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 (rs12141375) and 13 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
  • ADORA1 adenosine A1 receptor
  • CHIT1 chitinase 1 (chitotriosidase)

 

Results from other genome-wide association studies

Trait P Study Source
cg17725472 (chr1:203198781) 2.8×10-65 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg23683497 (chr1:203192493) 1.3×10-31 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Q13231 protein abundance levels 3.2×10-8 22595970 (PMID) GRASP2 pQTL
Alzheimer's disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms v. controls) 3.9×10-4 22005930 (PMID) GRASP2 nonQTL