Human Gene Set: KONIGORSKI_INCREASED_SUBCUTANEOUS_ADIPOSE_TISSUE_MASS_UP


Standard name KONIGORSKI_INCREASED_SUBCUTANEOUS_ADIPOSE_TISSUE_MASS_UP
Systematic name M50111
Brief description Genes that exhibit a postive CJAMP (Copula-based joint analysis of multiple phenotypes) beta estimate (beta > 0) for association with subcutaneous adipose tissue mass.
Full description or abstract Many studies have shown that abdominal adiposity is more strongly related to health risks than peripheral adiposity. However, the underlying pathways are still poorly understood. In this cross-sectional study using data from RNA-sequencing experiments and whole-body MRI scans of 200 participants in the EPIC-Potsdam cohort, our aim was to identify novel genes whose gene expression in subcutaneous adipose tissue has an effect on body fat mass (BFM) and body fat distribution (BFD). The analysis identified 625 genes associated with adiposity, of which 531 encode a known protein and 487 are novel candidate genes for obesity. Enrichment analyses indicated that BFM-associated genes were characterized by their higher than expected involvement in cellular, regulatory and immune system processes, and BFD-associated genes by their involvement in cellular, metabolic, and regulatory processes. Mendelian Randomization analyses suggested that the gene expression of 69 genes was causally related to BFM and BFD. Six genes were replicated in UK Biobank.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 35953519   Authors: Konigorski S,Janke J,Patone G,Bergmann MM,Lippert C,Hübner N,Kaaks R,Boeing H,Pischon T
Exact source Supplementary Table 5 41431_2022_1161_MOESM2_ESM, C-JAMP beta > 0
Related gene sets (show 3 additional gene sets from the source publication)
External links https://www.nature.com/articles/s41431-022-01161-3
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Source species Homo sapiens
Contributed by Anthony Castanza (MSigDB Team)
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identifier namespace		 Human_Ensembl_Gene_ID
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Version history 2025.1.Hs: First Introduced.

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