Author: Nathalie Pamir; Calvin Pan; Deanna L. Plubell; Patrick M. Hutchins; Chongren Tang; Jake Wimberger; Angela Irwin; Thomas Q. de Aguiar Vallim; Jay W. Heinecke; Aldons J. Lusis
Title: Genetic control of the HDL proteome Document date: 2018_8_31
ID: hx7n4xfo_24
Snippet: The high-level heritability of the proteins is demonstrated by >20K pQTL associated SNPs that map to > 66 loci. To understand whether a pQTL results from structural or regulatory variation, we have incorporated gene expression information. A positive finding in such analysis suggests that the genotype dependent differential gene expression is the basis of most of the association. (Farber et al., 2011) . In our studies, we used adipose and liver t.....
Document: The high-level heritability of the proteins is demonstrated by >20K pQTL associated SNPs that map to > 66 loci. To understand whether a pQTL results from structural or regulatory variation, we have incorporated gene expression information. A positive finding in such analysis suggests that the genotype dependent differential gene expression is the basis of most of the association. (Farber et al., 2011) . In our studies, we used adipose and liver tissue global gene expression profiles to map distinct loci in liver (5) and adipose tissue (20) and that are associated with the gene expression levels for the SNPs associated with pQTLs. Adipose tissue exhibited only inflammatory gene (Saa1, Saa2, Tfrc, Vtn) associated SNPs that were almost exclusively transacting. Liver tissue had cis and trans eQTLs associated with multiple genes including Apoc4, Apoh, Fgb, Tfrc, Saa2. The complex regulation at the protein and gene expression level dictates the protein composition of HDL and its hereditary preservation.
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