HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 270

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
alpha-1-antichymotrypsin complex cis Discovery rs6575449 14:95,097,303 C/T 0.19 995 -0.432 0.054 1.9×10-15 -1.080 3.3×10-15 1.7×10-13
alpha-1-antichymotrypsin complex cis Replication rs17753556 14:95,095,434 C/A 0.12 337 -0.177 0.116 0.128 -1.020 0.485 0.347
a1-Antichymotrypsin cis Discovery rs6575449 14:95,097,303 C/T 0.19 995 -0.377 0.053 3.2×10-12 -1.040 4.3×10-12 1.5×10-11
a1-Antichymotrypsin cis Replication rs8023057 14:95,097,556 A/G 0.12 337 -0.348 0.113 0.002 -1.050 0.002 0.002

 

Regional association plots

alpha-1-antichymotrypsin complex

Alpha-1-antichymotrypsin (a1-Antichymotrypsin)

 

Boxplots and histograms for top associations

alpha-1-antichymotrypsin complex

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

Alpha-1-antichymotrypsin (a1-Antichymotrypsin)

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

alpha-1-antichymotrypsin complex

Target (abbrv.) alpha-1-antichymotrypsin complex
Target (full name) alpha-1-antichymotrypsin complex
Somalogic ID (Sequence ID) SL018548 (4153-11_2)
Entrez Gene Symbol SERPINA3
UniProt ID P01011
UniProt Comment
  • Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
Biomarker applications (based on IPA annotation)
  • unspecified application
Wiki Pathways
  • Folate Metabolism
  • Selenium Pathway
  • Vitamin B12 Metabolism

Alpha-1-antichymotrypsin (a1-Antichymotrypsin)

Target (abbrv.) a1-Antichymotrypsin
Target (full name) Alpha-1-antichymotrypsin
Somalogic ID (Sequence ID) SL000248 (2879-9_2)
Entrez Gene Symbol SERPINA3
UniProt ID P01011
UniProt Comment
  • Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
Biomarker applications (based on IPA annotation)
  • unspecified application
Wiki Pathways
  • Folate Metabolism
  • Selenium Pathway
  • Vitamin B12 Metabolism

All locus annotations are based on the sentinel SNP (rs6575449) and 6 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
  • SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
  • SERPINA3
  • ADIPOR1P2 adiponectin receptor 1 pseudogene 2

 

Results from other genome-wide association studies

Trait P Study Source
cg10319640 (chr14:95090360) 2.1×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs