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WCMC

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

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Locus annotations

Locus 441

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
AK1A1 cis Discovery rs6662572 1:46,146,812 A/G 0.26 984 -0.326 0.049 5.8×10-11 -1.090 3.3×10-13 3.4×10-8
AK1A1 cis Replication rs1053941 1:46,084,383 C/A 0.13 337 -0.145 0.066 0.029 -1.070 0.013 0.037

 

Regional association plots

Alcohol dehydrogenase [NADP(+)] (AK1A1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Alcohol dehydrogenase [NADP(+)] (AK1A1)

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

Alcohol dehydrogenase [NADP(+)] (AK1A1)

Target (abbrv.) AK1A1
Target (full name) Alcohol dehydrogenase [NADP(+)]
Somalogic ID (Sequence ID) SL008039 (4192-10_2)
Entrez Gene Symbol AKR1A1
UniProt ID P14550
UniProt Comment
  • Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol. Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4-nitrobenzaldehyde, 1,2-naphthoquinone, methylglyoxal, and D-glucuronic acid. Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN).
Wiki Pathways
  • Benzo(a)pyrene metabolism
  • metapathway biotransformation

All locus annotations are based on the sentinel SNP (rs6662572) and 43 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
Potentially regulated genes
  • TESK2 testis-specific kinase 2
  • GPBP1L1 GC-rich promoter binding protein 1-like 1
  • AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
  • MAST2 microtubule associated serine/threonine kinase 2
  • PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma)
  • HPDL 4-hydroxyphenylpyruvate dioxygenase-like
  • TOE1 target of EGR1, member 1 (nuclear)
eQTL genes
  • TMEM69 transmembrane protein 69
  • MAST2 microtubule associated serine/threonine kinase 2
  • PRDX1 peroxiredoxin 1
  • MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma)

 

Results from other genome-wide association studies

Trait P Study Source
cg06530443 (chr1:45975820) 4.1×10-88 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg04012872 (chr1:46212749) 6.6×10-33 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
erythritol 5×10-11 24816252 (PMID) gwas.eu via SNiPA
Blood metabolite levels 5×10-11 24816252 (PMID) GWAS Catalog via SNiPA
Gene expression of NASP in peripheral blood monocytes 1×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of MMACHC///PRDX1 in blood 8.9×10-7 21829388 (PMID) GRASP2 eQTL
cg04296837 (chr1:46087768) 4.8×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Serum concentration of acetylphosphate 5.7×10-5 21886157 (PMID) GRASP2 metabQTL
Gene expression of [probe 2100519 centered at chr1:45937211] in blood 1.2×10-4 21829388 (PMID) GRASP2 eQTL