HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 179

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MICA cis Discovery rs2523570 6:31,329,734 C/T 0.17 993 0.570 0.057 2.7×10-22 1.480 1.5×10-21 1.6×10-8
MICA cis Replication rs9266772 6:31,352,113 A/G 0.20 337 0.260 0.088 0.004 1.160 0.002 0.365

 

Regional association plots

MHC class I polypeptide-related sequence A (MICA)

 

Boxplots and histograms for top associations

MHC class I polypeptide-related sequence A (MICA)

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

MHC class I polypeptide-related sequence A (MICA)

Target (abbrv.) MICA
Target (full name) MHC class I polypeptide-related sequence A
Somalogic ID (Sequence ID) SL005199 (2730-58_2)
Entrez Gene Symbol MICA
UniProt ID Q29983
UniProt Comment
  • Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T-cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis.
Biomarker applications (based on IPA annotation)
  • safety
Pathway Studio
  • Natural Killer Cell Activation
  • Natural Killer Cell Activation through C-type Lectin-like Receptors

All locus annotations are based on the sentinel SNP (rs2523570) and 12 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
Potentially regulated genes
eQTL genes
  • FLOT1 flotillin 1
  • HLA-B major histocompatibility complex, class I, B
  • XXbac-BPG248L24.12
  • SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
  • HCG22 HLA complex group 22
  • HCP5 HLA complex P5 (non-protein coding)

 

Results from other genome-wide association studies

Trait P Study Source
Coronary artery disease (CAD) 5.5×10-11 21971053 (PMID) GRASP2 nonQTL
Gene expression of probe 1557242_at in lymphoblastoid cell lines 1.3×10-10 17873877 (PMID) GRASP2 eQTL
Gene expression of HCG27 in blood 2.2×10-7 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of HLA-C [probe 2948914] in peripheral blood mononuclear cells 3.9×10-7 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of HLA-B [probe 2948958] in peripheral blood mononuclear cells 1.9×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of HLA-B in blood 5×10-5 21829388 (PMID) GRASP2 eQTL
Gene expression of HLA-C [probe 2948887] in peripheral blood mononuclear cells 1.3×10-4 19222302 (PMID) GRASP2 eQTL
Ulcerative collitis 4.4×10-4 Supplemental file