HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 198

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MICB cis Discovery rs2248372 6:31,446,466 G/A 0.33 996 0.417 0.045 9.7×10-20 1.150 1.4×10-9 0.013
MICB cis Replication rs2248372 6:31,446,466 G/A 0.34 337 0.413 0.063 1.8×10-10 1.180 1.4×10-7 0.095

 

Regional association plots

MHC class I polypeptide-related sequence B (MICB)

 

Boxplots and histograms for top associations

MHC class I polypeptide-related sequence B (MICB)

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

MHC class I polypeptide-related sequence B (MICB)

Target (abbrv.) MICB
Target (full name) MHC class I polypeptide-related sequence B
Somalogic ID (Sequence ID) SL005200 (5102-55_3)
Entrez Gene Symbol MICB
UniProt ID Q29980
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 (rs2248372) 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
  • HCP5 HLA complex P5 (non-protein coding)
Potentially regulated genes
eQTL genes
  • ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
  • HCG27 HLA complex group 27 (non-protein coding)
  • LY6G5C lymphocyte antigen 6 complex, locus G5C
  • PSORS1C2 psoriasis susceptibility 1 candidate 2
  • HLA-C major histocompatibility complex, class I, C
  • XXbac-BPG181B23.7
  • MICA MHC class I polypeptide-related sequence A
  • HLA-B major histocompatibility complex, class I, B
  • XXbac-BPG248L24.12
  • MICB MHC class I polypeptide-related sequence B
  • PSORS1C1 psoriasis susceptibility 1 candidate 1
  • LST1 leukocyte specific transcript 1

 

Results from other genome-wide association studies

Trait P Study Source
Rheumatoid arthritis 4.4×10-12 20453842 (PMID) GRASP2 nonQTL
Type 1 diabetes 2.8×10-11 17632545 (PMID) GRASP2 nonQTL
Triglycerides 2.9×10-11 24097068 (PMID) Supplemental file
Grave's disease 7.8×10-9 21900946 (PMID) GRASP2 nonQTL
Gene expression of MICA in peripheral blood monocytes 1.7×10-7 20502693 (PMID) GRASP2 eQTL
HIV-1 control (viral load at set point) 1.8×10-7 20041166 (PMID) GRASP2 nonQTL
Total cholesterol 1.6×10-6 24097068 (PMID) Supplemental file
Pemphigus vulgaris 1.9×10-6 22437316 (PMID) GRASP2 nonQTL
LDL cholesterol 1.3×10-5 24097068 (PMID) Supplemental file
HIV-1 infection (natural long-term nonprogression) 2.6×10-5 22238471 (PMID) GRASP2 nonQTL
gamma-glutamylglutamine 2.9×10-5 24816252 (PMID) gwas.eu via SNiPA
HDL cholesterol 6×10-5 24097068 (PMID) Supplemental file
Body mass index (BMI) 9.3×10-5 20935630 (PMID) GRASP2 nonQTL
Gene expression of [probe 1440603 centered at chr6:31556036] in blood 3.3×10-4 21829388 (PMID) GRASP2 eQTL
Gene expression of HLA-B in blood 3.7×10-4 21829388 (PMID) GRASP2 eQTL
Gene expression of TNF in blood 4×10-4 21829388 (PMID) GRASP2 eQTL