HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 299

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Granulysin cis Discovery rs6547631 2:85,909,026 C/T 0.46 997 -0.338 0.043 1.2×10-14 -1.130 5.2×10-15 1.8×10-12
Granulysin cis Replication rs1030862 2:85,902,569 A/G 0.45 337 -0.315 0.070 1×10-5 -1.140 1.1×10-5 1×10-5

 

Regional association plots

 

Boxplots and histograms for top associations

Granulysin

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

Granulysin

Target (abbrv.) Granulysin
Target (full name) Granulysin
Somalogic ID (Sequence ID) SL000678 (3195-50_2)
Entrez Gene Symbol GNLY
UniProt ID P22749
UniProt Comment
  • Antimicrobial protein that kills intracellular pathogens. Active against a broad range of microbes, including Gram-positive and Gram-negative bacteria, fungi, and parasites. Kills Mycobacterium tuberculosis.

All locus annotations are based on the sentinel SNP (rs6547631) and 3 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ATOH8 in peripheral blood monocytes 1.1×10-98 20502693 (PMID) GRASP2 eQTL
Gene expression of GNLY (probeID ILMN_1790692) in cerebellum in Alzheimer's disease cases and controls 1.8×10-23 22685416 (PMID) GRASP2 eQTL
Gene expression of GNLY (probeID ILMN_1790692) in temporal cortex in Alzheimer's disease cases and controls 7×10-21 22685416 (PMID) GRASP2 eQTL
Gene expression of GNLY in peripheral blood monocytes 1.5×10-19 20502693 (PMID) GRASP2 eQTL
Gene expression of MLH3 in peripheral blood monocytes 4.3×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of DYNLRB2 in peripheral blood monocytes 8.5×10-6 20502693 (PMID) GRASP2 eQTL