Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

ABSTRACT:

Background

Inactivating mutations of the hypothalamic transcription factor singleminded1 (SIM1) have been shown as a cause of early-onset severe obesity. However, to date, the contribution of SIM1 mutations to the obesity phenotype has only been studied in a few populations. In this study, we screened the functional regions of SIM1 in severely obese children of Slovak and Moravian descent to determine if genetic variants within SIM1 may influence the development of obesity in these populations.

Methods

The SIM1 promoter region, exons and exon-intron boundaries were sequenced in 126 unrelated obese children and adolescents (2-18 years of age) and 41 adult lean controls of Slovak and Moravian origin. Inclusion criteria for the children and adolescents were a body mass index st

SUBMITTER: Stanikova D 

PROVIDER: S-EPMC5417716 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature