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

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Locus annotations

Locus 350

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MMP-8 trans Discovery rs2227955 6:31,778,077 T/G 0.02 997 1.024 0.139 4.2×10-13 1.390 1×10-13 4.5×10-11
C34 gp41 HIV Fragment trans Discovery rs2227955 6:31,778,077 T/G 0.02 997 0.848 0.143 3.8×10-9 1.230 2.2×10-8 3.5×10-5

 

Regional association plots

Neutrophil collagenase (MMP-8)

Download the association data used to generate this plot

gp41 C34 peptide, HIV (C34 gp41 HIV Fragment)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Neutrophil collagenase (MMP-8)

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

gp41 C34 peptide, HIV (C34 gp41 HIV Fragment)

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

Neutrophil collagenase (MMP-8)

Target (abbrv.) MMP-8
Target (full name) Neutrophil collagenase
Somalogic ID (Sequence ID) SL000526 (2954-56_2)
Entrez Gene Symbol MMP8
UniProt ID P22894
UniProt Comment
  • Can degrade fibrillar type I, II, and III collagens.
Targeted by drugs (based on IPA annotation)
  • marimastat
Biomarker applications (based on IPA annotation)
  • efficacy

gp41 C34 peptide, HIV (C34 gp41 HIV Fragment)

Target (abbrv.) C34 gp41 HIV Fragment
Target (full name) gp41 C34 peptide, HIV
Somalogic ID (Sequence ID) SL016148 (4792-51_2)
Entrez Gene Symbol Human-virus
UniProt ID Q70626
UniProt Comment
  • Envelope glycoprotein gp160: Oligomerizes in the host endoplasmic reticulum into predominantly trimers. In a second time, gp160 transits in the host Golgi, where glycosylation is completed. The precursor is then proteolytically cleaved in the trans-Golgi and thereby activated by cellular furin or furin-like proteases to produce gp120 and gp41.

All locus annotations are based on the sentinel SNP (rs2227955) and 7 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
  • HSPA1L heat shock 70kDa protein 1-like
  • LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
  • HSPA1A heat shock 70kDa protein 1A
  • SNORD52 small nucleolar RNA, C/D box 52
  • C6orf48 chromosome 6 open reading frame 48
  • SNORD48 small nucleolar RNA, C/D box 48
  • NEU1 sialidase 1 (lysosomal sialidase)
  • SLC44A4 solute carrier family 44, member 4
Potentially regulated genes