HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 320

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 rs4905179 14:94,795,492 A/G 0.19 994 -0.404 0.053 7.7×10-14 -1.100 2.2×10-10 0.002
a1-Antitrypsin cis Replication rs926144 14:94,813,402 A/G 0.13 337 -0.236 0.119 0.049 -1.020 0.398 0.877

 

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 (rs4905179) and 8 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
  • SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
eQTL genes
  • SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

 

Results from other genome-wide association studies

Trait P Study Source
cg13251292 (chr14:94790088) 1.8×10-62 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
LDL cholesterol 5.6×10-7 24097068 (PMID) Supplemental file
Breast size 8×10-7 22747683 (PMID) GWAS Catalog via SNiPA
Breast size (bra cup size in women) 9.9×10-7 22747683 (PMID) GRASP2 nonQTL
Triglycerides 1.1×10-6 24097068 (PMID) Supplemental file
Emphysema (in chronic obstructive pulmonary disease patients) 9.8×10-6 20709820 (PMID) GRASP2 nonQTL
Gene expression of SERPINA1 in blood 2.3×10-5 21829388 (PMID) GRASP2 eQTL
Total cholesterol 2×10-4 20686565 (PMID) GRASP2 nonQTL