Human Gene Set: PETRETTO_HEART_MASS_QTL_CIS_DN


Standard name PETRETTO_HEART_MASS_QTL_CIS_DN
Systematic name M13336
Brief description Down-regulated cis-regulated expression quantitative loci (cis-eQTL) in the heart that colocalize with previously mapped cardiac mass QTLs.
Full description or abstract Left ventricular mass (LVM) and cardiac gene expression are complex traits regulated by factors both intrinsic and extrinsic to the heart. To dissect the major determinants of LVM, we combined expression quantitative trait locus1 and quantitative trait transcript (QTT) analyses of the cardiac transcriptome in the rat. Using these methods and in vitro functional assays, we identified osteoglycin (Ogn) as a major candidate regulator of rat LVM, with increased Ogn protein expression associated with elevated LVM. We also applied genome-wide QTT analysis to the human heart and observed that, out of 22,000 transcripts, OGN transcript abundance had the highest correlation with LVM. We further confirmed a role for Ogn in the in vivo regulation of LVM in Ogn knockout mice. Taken together, these data implicate Ogn as a key regulator of LVM in rats, mice and humans, and suggest that Ogn modifies the hypertrophic response to extrinsic factors such as hypertension and aortic stenosis.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 18443592   Authors: Petretto E,Sarwar R,Grieve I,Lu H,Kumaran MK,Muckett PJ,Mangion J,Schroen B,Benson M,Punjabi PP,Prasad SK,Pennell DJ,Kiesewetter C,Tasheva ES,Corpuz LM,Webb MD,Conrad GW,Kurtz TW,Kren V,Fischer J,Hubner N,Pinto YM,Pravenec M,Aitman TJ,Cook SA
Exact source Table 2S
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Source species Rattus norvegicus
Contributed by Jessica Robertson (MSigDB Team)
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identifier namespace		 AFFY_Rat230
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Version history 3.0: First introduced

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