rs1010447 - MTOR

Magnitude 2.0 · 1 study on file

Reported associations

• Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities. - Nature metabolism (2021) · Huang LO, Rauch A, Mazzaferro E, Preuss M, Carobbio S, Bayrak CS, Chami N, Wang Z, Schick UM, Yang N, Itan Y, Vidal-Puig A, den Hoed M, Mandrup S, Kilpeläinen TO, Loos RJF · PubMed 33619380

  Obesity is a major risk factor for cardiometabolic diseases. Nevertheless, a substantial proportion of individuals with obesity do not suffer cardiometabolic comorbidities. The mechanisms that uncouple adiposity from its cardiometabolic complications are not fully understood. Here, we identify 62 loci of which the same allele is significantly associated with both higher adiposity and lower cardiometabolic risk. Functional analyses show that the 62 loci are enriched for genes expressed in adipose tissue, and for regulatory variants that influence nearby genes that affect adipocyte differentiation. Genes prioritized in each locus support a key role of fat distribution (FAM13A, IRS1 and PPARG) and adipocyte function (ALDH2, CCDC92, DNAH10, ESR1, FAM13A, MTOR, PIK3R1 and VEGFB). Several additi

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