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WCMC

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

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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)

Download the association data used to generate this plot

 

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


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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