| http://purl.uniprot.org/citations/35999217 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35999217 | http://www.w3.org/2000/01/rdf-schema#comment | "Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the UK, Sweden and Mexico, we identify 16 genes associated with fat distribution at exome-wide significance. We show 6-fold larger effect for fat-distribution associated rare coding variants compared with fine-mapped common alleles, enrichment for genes expressed in adipose tissue and causal genes for partial lipodystrophies, and evidence of sex-dimorphism. We describe an association with favorable fat distribution (p = 1.8 × 10-09), favorable metabolic profile and protection from type 2 diabetes (~28% lower odds; p = 0.004) for heterozygous protein-truncating mutations in INHBE, which encodes a circulating growth factor of the activin family, highly and specifically expressed in hepatocytes. Our results suggest that inhibin βE is a liver-expressed negative regulator of adipose storage whose blockade may be beneficial in fat distribution-associated metabolic disease."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-022-32398-7"xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Baras A."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Della Gatta G."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Altarejos J."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Kim M."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Jones M."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Balasubramanian S."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Collins R."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Melander O."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Orho-Melander M."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Overton J.D."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Carey D.J."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Nielsen J.B."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Shuldiner A.R."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Rader D.J."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Abecasis G.R."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Economides A.N."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Murphy A.J."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Yancopoulos G.D."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Walls J.R."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Reid J.G."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Gusarova V."xsd:string |
| http://purl.uniprot.org/citations/35999217 | http://purl.uniprot.org/core/author | "Lotta L.A."xsd:string |