Labruna Giuseppe, Pasanisi Fabrizio, Fortunato Giuliana, Nardelli Carmela, Finelli Carmine, Farinaro Eduardo, Contaldo Franco, Sacchetti Lucia
Fondazione IRCCS SDN, Istituto di Ricerca Diagnostica e Nucleare, Via Gianturco 113, 80143 Naples, Italy.
J Obes. 2011;2011:269043. doi: 10.1155/2011/269043. Epub 2011 May 19.
Brown adipose tissue, where Uncoupling Protein 1 (UCP1) activity uncouples mitochondrial respiration, is an important site of facultative energy expenditure. This tissue may normally function to prevent obesity. Our aim was to investigate by sequence analysis the presence of UCP1 gene variations that may be associated with obesity. We studied 100 severe obese adults (BMI > 40 kg/m(2)) and 100 normal-weight control subjects (BMI range = 19-24.9 kg/m(2)). We identified 7 variations in the promoter region, 4 in the intronic region and 4 in the exonic region. Globally, 72% of obese patients bore UCP1 polymorphisms. Among UCP1 variants, g.IVS4-208T>G SNP was associated with obesity (OR: 1.77; 95% CI = 1.26-2.50; P = .001). Further, obese patients bearing the g.-451C>T (CT+TT) or the g.940G>A (GA+AA) genotypes showed a higher BMI than not polymorphic obese patients (P = .008 and P = .043, resp.). In conclusion, UCP1 SNPs could represent "thrifty" factors that promote energy storage in prone subjects.
棕色脂肪组织中解偶联蛋白1（UCP1）的活性可使线粒体呼吸解偶联，是兼性能量消耗的重要场所。该组织通常可能具有预防肥胖的功能。我们的目的是通过序列分析研究可能与肥胖相关的UCP1基因变异的存在情况。我们研究了100名重度肥胖成年人（BMI>40 kg/m²）和100名正常体重对照者（BMI范围=19-24.9 kg/m²）。我们在启动子区域鉴定出7个变异，在内含子区域鉴定出4个变异，在外显子区域鉴定出4个变异。总体而言，72%的肥胖患者携带UCP1多态性。在UCP1变异中，g.IVS4-208T>G SNP与肥胖相关（OR：1.77；95%CI=1.26-2.50；P=.001）。此外，携带g.-451C>T（CT+TT）或g.940G>A（GA+AA）基因型的肥胖患者的BMI高于非多态性肥胖患者（分别为P=.008和P=.043）。总之，UCP1单核苷酸多态性可能代表促进易感个体能量储存的“节俭”因素。
