Heterozygous rare genetic variants in non-syndromic early-onset obesity

Serra-Juhé, C.
Martos-Moreno, G.
Bou de Pieri, F.
Flores, R.
Chowen, J.A.
Pérez-Jurado, L.A.
Argente, J.

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Publication date

January 2020

DOI

10.1038/s41366-019-0357-5

Publisher

Springer Science and Business Media LLC

Journal

International Journal of Obesity

Abstract

BACKGROUND: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe obesity. Novel therapeutic interventions are in development for some genetic forms, emphasizing the importance of determining genetic contributions. OBJECTIVE: We aimed to define the contribution of rare single-nucleotide genetic variants (RSVs) in candidate genes to non-syndromic severe early-onset obesity (EOO; body mass index (BMI) >+3 standard deviation score, <3 years). METHODS: Using a pooled DNA-sequencing approach, we screened for RSVs in 15 obesity candidate genes in a series of 463 EOO patients and 480 controls....