Genetic investigation of syndromic forms of obesity.

Laura Machado Lara CarvalhoCarla Sustek D'AngeloDarine VillelaSilvia Souza da CostaAlexander Augusto de Lima JorgeIsrael Tojal da SilvaMarília de Oliveira ScliarLuiza Dias ChavesAna Cristina Victorino KrepischiCelia Priszkulnik KoiffmannCarla Rosenberg

Published in: International journal of obesity (2005) (2022)

All nine detected P/LP variants involved genes already known to lead to syndromic ID/DD; however, for only two genes (EHMT1 and MYT1L) is the link with obesity well established. This is the first study applying a comprehensive genomic investigation of an SO cohort, showing a high diagnostic yield (~47%). Additionally, our findings suggested that several known ID/DD genes may also predispose individuals to SO.

Keyphrases

genome wide
copy number
insulin resistance
metabolic syndrome
weight loss
type diabetes
intellectual disability
bioinformatics analysis
genome wide identification
dna methylation
high fat diet induced
weight gain
genome wide analysis
adipose tissue
gene expression
physical activity