HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 282

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
a1-Antitrypsin cis Discovery rs2749534 14:94,809,760 A/G 0.20 997 0.427 0.054 5.6×10-15 1.130 3.5×10-16 2.5×10-10
a1-Antitrypsin cis Replication rs12880218 14:94,835,046 C/A 0.18 337 0.253 0.095 0.008 1.030 0.123 0.427

 

Regional association plots

Alpha-1-antitrypsin (a1-Antitrypsin)

 

Boxplots and histograms for top associations

Alpha-1-antitrypsin (a1-Antitrypsin)

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

Alpha-1-antitrypsin (a1-Antitrypsin)

Target (abbrv.) a1-Antitrypsin
Target (full name) Alpha-1-antitrypsin
Somalogic ID (Sequence ID) SL000249 (3580-25_8)
Entrez Gene Symbol SERPINA1
UniProt ID P01009
UniProt Comment
  • Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • unspecified application
Wiki Pathways
  • Complement and Coagulation Cascades
Pathway Interaction Database
  • FOXA1 transcription factor network
  • p73 transcription factor network
Reactome
  • Platelet degranulation

All locus annotations are based on the sentinel SNP (rs2749534) and 25 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
  • SERPINA2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)
  • SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Potentially regulated genes
  • SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPINA1
  • SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of SERPINA1 in blood 3.1×10-6 21829388 (PMID) GRASP2 eQTL
O-Phosphocholine:trans-Aconitate 2.2×10-5 21572414 (PMID) GRASP2 metabQTL
Sporadic Creutzfeldt-Jakob disease 3.1×10-4 22210626 (PMID) GRASP2 nonQTL