HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 423

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 rs9368624 6:30,135,977 G/A 0.20 994 -0.370 0.055 2.5×10-11 -1.270 10×10-10 5.8×10-5
MICA cis Replication rs9368624 6:30,135,977 G/A 0.29 337 -0.052 0.081 0.519 -1.030 0.549 0.16

 

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 (rs9368624) and 30 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
  • TRIM31-AS1 TRIM31 antisense RNA 1
  • TRIM31 tripartite motif containing 31
  • TRIM40 tripartite motif containing 40
  • TRIM10 tripartite motif containing 10
  • TRIM15 tripartite motif containing 15
  • TRIM26 tripartite motif containing 26
  • PAIP1P1 poly(A) binding protein interacting protein 1 pseudogene 1
Potentially regulated genes
eQTL genes
  • HCG18 HLA complex group 18 (non-protein coding)
  • HLA-H major histocompatibility complex, class I, H (pseudogene)
  • HLA-V major histocompatibility complex, class I, V (pseudogene)
  • PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11
  • HLA-W major histocompatibility complex, class I, W (pseudogene)
  • HLA-U major histocompatibility complex, class I, U (pseudogene)
  • MICA MHC class I polypeptide-related sequence A
  • HLA-G major histocompatibility complex, class I, G
  • HLA-T major histocompatibility complex, class I, T (pseudogene)
  • HLA-K major histocompatibility complex, class I, K (pseudogene)
  • TRIM15 tripartite motif containing 15
  • HLA-L major histocompatibility complex, class I, L (pseudogene)
  • TRIM10 tripartite motif containing 10

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of HCG18 in peripheral blood monocytes 4.5×10-16 20502693 (PMID) GRASP2 eQTL
Gene expression of HLA-A29.1 in peripheral blood monocytes 1.5×10-15 20502693 (PMID) GRASP2 eQTL
Gene expression of RPP21 in normal prepouch ileum 2.2×10-11 23474282 (PMID) GRASP2 eQTL
Gene expression of probe 240182_at in lymphoblastoid cell lines 8×10-10 17873877 (PMID) GRASP2 eQTL
Gene expression of NDUFS1 in peripheral blood monocytes 1.3×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of KIT in peripheral blood monocytes 9.3×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of RPP21 in blood 1.2×10-8 21829388 (PMID) GRASP2 eQTL
Height 1.1×10-7 25282103 (PMID) Supplemental file
LDL cholesterol 5.1×10-6 24097068 (PMID) Supplemental file
Triglycerides 3.7×10-5 24097068 (PMID) Supplemental file
Gene expression of PPP1R11///RNF39 in blood 1×10-4 21829388 (PMID) GRASP2 eQTL
Gene expression of FLJ45422 [probe 2901463] in brain cortex 1.3×10-4 19222302 (PMID) GRASP2 eQTL
Gene expression of TRIM10 in blood 3.7×10-4 21829388 (PMID) GRASP2 eQTL