HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 167

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 rs9469012 6:31,421,300 G/A 0.12 991 -0.694 0.066 9.6×10-25 -1.650 9.6×10-27 5.4×10-11
MICA cis Replication rs10223568 6:31,390,203 A/G 0.24 337 -0.627 0.072 1.7×10-16 -1.410 1.5×10-16 3.6×10-6

 

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 (rs9469012) and 21 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
  • MICA MHC class I polypeptide-related sequence A
  • HLA-B major histocompatibility complex, class I, B
  • XXbac-BPG181B23.7
  • HCG22 HLA complex group 22
  • LY6G5C lymphocyte antigen 6 complex, locus G5C

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of LOC282956 in CEU-CHB-JPT-YRI lymphoblastoid cell lines 8.6×10-20 17873874 (PMID) GRASP2 eQTL
Height 2×10-15 25282103 (PMID) Supplemental file
HIV-1 control 7.5×10-10 21051598 (PMID) GRASP2 nonQTL
Triglycerides 5.8×10-9 24097068 (PMID) Supplemental file
Gene expression of MICA in normal prepouch ileum 8.9×10-9 23474282 (PMID) GRASP2 eQTL
LDL cholesterol 8.3×10-8 24097068 (PMID) Supplemental file
Gene expression of HCG4 in peripheral blood monocytes 1.2×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of LOC282956 in YRI lymphoblastoid cell lines 2.5×10-7 17873874 (PMID) GRASP2 eQTL
Behcet syndrome 1.3×10-6 pha002888 (dbGaP) dbGaP via SNiPA
Total cholesterol 5.5×10-6 20686565 (PMID) GRASP2 nonQTL
Rate of HIV-1 progression to clinical AIDS 1.3×10-5 20064070 (PMID) GRASP2 nonQTL
LDL cholesterol change with statins 2.5×10-5 20339536 (PMID) GRASP2 nonQTL
Total cholesterol change with statins 5.3×10-5 20339536 (PMID) GRASP2 nonQTL
Rheumatoid arthritis 1.4×10-4 20453842 (PMID) GRASP2 nonQTL
Cervical cancer 4.7×10-4 21716314 (PMID) GRASP2 nonQTL