UCP1 genetic polymorphism (–3826 A/G) diminishes resting energy expenditure and thermoregulatory sympathetic nervous system activity in young females

Abstract

Background: Recent findings regarding the existence of functional brown adipose tissue (BAT) in adult humans suggest a physiological role of BAT and uncoupling protein 1 (UCP1)-linked thermogenesis in energy balance. Objective: To investigate whether UCP1 polymorphism was associated with resting energy expenditure (REE) and thermoregulatory sympathetic nervous system (SNS) activity in humans. Methods: A total of 82 healthy females (20-22 years) were genotyped for the -3826 A/G polymorphism of the UCP1 gene using a fluorescent allele-specific DNA primer assay system. REE was measured by indirect calorimetry. The thermoregulatory SNS activity was assessed by heart rate variability power spectral analysis according to our previously reported method. Each subject was studied in the morning, after an overnight fast. Nutritional values were calculated on the basis of 2-day food records.

A New Era in Brown Adipose Tissue Biology: Molecular Control of Brown Fat Development and Energy Homeostasis

“…SNPs within the UCP1 gene (−3826 A/G) and the β3-AR gene (64 Trp/Arg) act synergistically to lower BAT prevalence and activity (143). This finding is in agreement with reports that these two particular polymorphisms are associated with lower resting energy expenditure and with decreased cold-induced or postprandial thermogenesis (144, 145). …”

Brown and beige fat in humans: thermogenic adipocytes that control energy and glucose homeostasis

“…In humans, genetic links to BAT mass and energy expenditure remain less understood. Polymorphisms in UCP1 (-3826 A/G) and β3-adrendergic receptor (ADRB3) (64 Trp/Arg) are associated with lower resting energy expenditure and decreased cold-induced thermogenesis (96,97). Furthermore the BAT prevalence was significantly lower in older subjects with polymorphisms in the UCP1 and β3-adrendergic receptor genes (98).…”

Physiology and relevance of human adaptive thermogenesis response

“…Mice have a remarkable ability of adapting to chronic cold by expanding their NST capacity; NST and ST in combination can increase EE in excess of 300% [15]. lower resting EE by indirect calorimetry and less activation of the sympathetic nervous system [82]. Further studies should thus focus on the definition of the metabolic effects of AT response in this population, and on the role of genetic background in the modulation of the response, in BAT expansion, and in the metabolic effects of AT (Box 3).…”