Connecting genetic risk to disease endpoints through the human blood plasma proteome
ONLINE SUPPLEMENTARY INFORMATION
Locus 62
Top associations per target
| Target | cis/trans | Study | SNP | SNP location | Maj/min allele | MAF | N | βinv | seinv | Pinv | fclog | Plog | Praw |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BST1 | cis | Discovery | rs12651314 | 4:15,753,570 | C/T | 0.20 | 996 | -0.866 | 0.050 | 3.7×10-58 | -1.500 | 1.4×10-54 | 7.4×10-61 |
| BST1 | cis | Replication | rs2286879 | 4:15,740,880 | A/G | 0.32 | 337 | -0.532 | 0.059 | 3×10-17 | -1.360 | 6.2×10-13 | 2.1×10-16 |
Regional association plots
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (BST1)
Boxplots and histograms for top associations
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (BST1)
| Target (abbrv.) | BST1 |
| Target (full name) | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 |
| Somalogic ID (Sequence ID) | SL008644 (4535-50_2) |
| Entrez Gene Symbol | BST1 |
| UniProt ID | Q10588 |
| UniProt Comment |
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All locus annotations are based on the sentinel SNP (rs12651314) and 3 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 | |
| eQTL genes |
|
Results from other genome-wide association studies
| Trait | P | Study | Source |
|---|---|---|---|
| Gene expression of BST1 in blood | 5×10-33 | 21829388 (PMID) | GRASP2 eQTL |
| Gene expression of CD38 (probeID ILMN_2233783) in cerebellum in Alzheimer's disease cases and controls | 1.3×10-8 | 22685416 (PMID) | GRASP2 eQTL |
| Gene expression of BST1 in peripheral blood monocytes | 3.8×10-8 | 20502693 (PMID) | GRASP2 eQTL |
| Gene expression of TSPYL1 in peripheral blood monocytes | 5.1×10-7 | 20502693 (PMID) | GRASP2 eQTL |
| Gene expression of CD38 (probeID ILMN_2233783) in temporal cortex in Alzheimer's disease cases and controls | 5.4×10-7 | 22685416 (PMID) | GRASP2 eQTL |
| Child behavior checklist/1.5-5 pervasive developmental problems | 1.5×10-6 | 23049896 (PMID) | GRASP2 nonQTL |
| Gene expression of BST1 in blood cells in Celiac disease | 1.6×10-6 | 19128478 (PMID) | GRASP2 eQTL |
| Gene expression of SIN3A in peripheral blood monocytes | 3.8×10-6 | 20502693 (PMID) | GRASP2 eQTL |
| Gene expression of ZFYVE26 in peripheral blood monocytes | 5.6×10-6 | 20502693 (PMID) | GRASP2 eQTL |
| Gene expression of UBQLN1 in peripheral blood monocytes | 8.6×10-6 | 20502693 (PMID) | GRASP2 eQTL |
| Gene expression of ISCA2 in peripheral blood monocytes | 8.6×10-6 | 20502693 (PMID) | GRASP2 eQTL |
| Parkinson's disease | 4.6×10-4 | 22451204 (PMID) | GRASP2 nonQTL |
Near total protein loss of BST1 in homozygotes of certain minor allele variants.
Multiple replicated cis-pQTLs to ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (BST1). BST1 is an extracellularly exposed enzyme that possesses Cyclic ADP ribose (cADPR) hydrolase activity. cAD is a second messenger that releases calcium from intracellular calcium stores. BST1 is mainly expressed in the bone marrow. It appears that the minor allele variants of both, rs2302465 (Locus 18) and rs7657257 (Locus 151), tag haplotypes that carry the same functional variant, and which leads to full loss of BST1. Using imputed data a number of highly significant SNPs were identified, i.e. SNP rs73224659 (p=4.0×10-179 compared to p=1.5×10-108 for rs2302465). Minor allele carriers of rs73224659 show nearly no protein levels of BST1.
The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.