The Genetics of Obesity

Abstract

Understanding the genetic causes of obesity permits anticipatory guidance and targeted treatments. Children with hyperphagia and severe early-onset obesity should receive genetic testing for rare monogenic and syndromic disorders caused by pathogenic variants involving a single gene or single chromosomal region. Gene panels covering the leptin pathway, the key regulator of energy balance, are becoming more widely available and at lower cost. Polygenic obesity is much more common and involves multiple genes throughout the genome, although the overlap in genes for rare and common disorders suggests a spectrum of severity and the potential of shared precision medicine approaches for treatment.

Keywords: Genetic obesity syndromes; Leptin pathway; Monogenic obesity; Polygenic obesity; Syndromic obesity.