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

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Locus annotations

Locus 274

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ETHE1 trans Discovery rs3733159 3:186,360,409 T/G 0.31 997 0.364 0.045 3×10-15 1.070 1.5×10-8 0.001
ETHE1 trans Replication rs9898 3:186,390,627 G/A 0.48 337 0.212 0.075 0.005 1.080 0.005 0.013
FETUB cis Discovery rs3733159 3:186,360,409 T/G 0.31 997 0.266 0.044 1.4×10-9 1.050 5×10-6 2.6×10-5
FETUB cis Replication rs3733159 3:186,360,409 A/C 0.41 337 0.065 0.076 0.397 -1.030 0.392 0.298

 

Regional association plots

 

Boxplots and histograms for top associations

Persulfide dioxygenase ETHE1, mitochondrial (ETHE1)

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

Fetuin-B (FETUB)

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

Persulfide dioxygenase ETHE1, mitochondrial (ETHE1)

Target (abbrv.) ETHE1
Target (full name) Persulfide dioxygenase ETHE1, mitochondrial
Somalogic ID (Sequence ID) SL011532 (3847-56_2)
Entrez Gene Symbol ETHE1
UniProt ID O95571
UniProt Comment
  • Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897).
Reactome
  • Sulfide oxidation to sulfate

Fetuin-B (FETUB)

Target (abbrv.) FETUB
Target (full name) Fetuin-B
Somalogic ID (Sequence ID) SL006777 (3367-8_3)
Entrez Gene Symbol FETUB
UniProt ID Q9UGM5
UniProt Comment
  • Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity).

All locus annotations are based on the sentinel SNP (rs3733159) and 1 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