Gene: PAFAH1B2

Alternate names for this Gene: HEL-S-303

Gene Summary: Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: platelet activating factor acetylhydrolase 1b catalytic subunit 2

Type of Gene: protein-coding

rs12281009 in PAFAH1B2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs186808413 in PAFAH1B2 gene and High density lipoprotein measurement PMID 24507774 2014 Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361C>T; p.Gln121*], PAFAH1B2 rs186808413 [c.482C>T; p.Ser161Leu], COL18A1 rs114139997 [c.331G>A; p.Gly111Arg], and PCSK7 rs142953140 [c.1511G>A; p.Arg504His]) with large effects on HDL-C and/or triglycerides.

rs7940310 in PAFAH1B2 gene and Protein measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs7112513 in PAFAH1B2 gene and Soluble Transferrin Receptor Measurement PMID 18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).

PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs7128382 in PAFAH1B2 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs6589602 in PAFAH1B2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.