Rhythm estimates mutations in genes tied to obesity
Rhythm Pharmaceuticals Inc. (NASDAQ:RYTM) presented an analysis of genetic epidemiology data at the Endocrine Society meeting in Chicago suggesting that about 12,800 Americans are homozygous or compound heterozygous for known and predicted loss-of-function variants in three genes connected to obesity -- leptin receptor (LEPR; CD295), proprotein convertase subtilisin/kexin type 1 (PCSK1) and proopiomelanocortin (POMC).
Researchers from the Icahn School of Medicine at Mount Sinai first identified known loss-of-function variants in the three genes through a comprehensive literature search and analysis of several genetic databases, including the Human Gene Mutation Database, which contains 157,133 different mutations across 6,603 genes, and ClinVar, which contains 381,338 variations across 27,824 genes. ClinVar is a public archive of reports documenting relationships among human variations and phenotypes ...