Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

ABSTRACT:

Background/objectives

Obesity poses a major public health concern. Although BMI heritability is estimated at 40-80%, genetic diagnostics remain challenging. This study aims to (i) assess the diagnostic yield of monogenic obesity in a large patient sample using exome-wide data, (ii) identify predictors to improve genetic testing criteria, and (iii) evaluate whether the identified genes are included in public obesity gene panels.

Subjects/methods

We reviewed the genetic test results of 521 patients with obesity. 84.7% underwent whole-exome analysis, 15.3% were analyzed using a multi-thousand-gene panel.

Results

Monogenic obesity was diagnosed in 5.8% of patients, while 7.1% carried a potentially obesogenic variant. Diagnostic yield was higher in children (6.3%) and pati

SUBMITTER: Kunzel R 

PROVIDER: S-EPMC12283394 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature