Clément K, Ruiz J, Cassard-Doulcier A M, Bouillaud F, Ricquier D, Basdevant A, Guy-Grand B, Froguel P
Department de Nutrition, Hôtel-Dieu, Paris, France.
Int J Obes Relat Metab Disord. 1996 Dec;20(12):1062-6.
Obesity results from an imbalance between caloric intake and energy expenditure, which is partly genetically determined. We have investigated, using a PCR-RFLP assay, the effects on weight gain of two genetic variants of the uncoupling proteins and the beta 3-adrenoceptor, two major expressed proteins of the brown adipose tissue (BAT) involved in thermo-genesis.
238 morbidly obese and 91 non obese Caucasian subjects.
A high prevalence (27%) in French Caucasians of the A-->G change variation located in the 5' flanking domain of the UCP gene was observed with no significant difference between morbidly obese patients and non obese subjects, suggesting that UCP gene is not a major gene for obesity. However, in the population of morbidly obese subjects, the presence of the A-->G allelic variant of the UCP gene showed to be an associated factor of high weight gain during adult life (odd-ratio: 1.4, P = 0.02). Such an association was previously described for the Trp64Arg mutation of the beta 3-AR gene. Furthermore, an additive effect of these two gene variants on weight gain was observed (Odd-Ratio: 4.95, trend test: P = 0.05). The attributable risks for UCP gene and beta 3-AR gene variants were respectively: 25% and 9%.
These data support the hypothesis of a possible link between energy balance, BAT and weight gain in human.
肥胖是由热量摄入与能量消耗之间的失衡所致，部分由基因决定。我们使用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP 分析），研究了解偶联蛋白和β3-肾上腺素能受体这两种参与产热的棕色脂肪组织（BAT）的主要表达蛋白的两种基因变异对体重增加的影响。
238 名病态肥胖的白种人和 91 名非肥胖的白种人。
在法国白种人中观察到位于解偶联蛋白（UCP）基因 5'侧翼区域的 A→G 变化变异的高患病率（27%），病态肥胖患者与非肥胖受试者之间无显著差异，这表明 UCP 基因不是肥胖的主要基因。然而，在病态肥胖受试者群体中，UCP 基因的 A→G 等位基因变异的存在显示为成年期高体重增加的相关因素（优势比：1.4，P = 0.02）。此前已针对β3-肾上腺素能受体（β3-AR）基因的 Trp64Arg 突变描述过这种关联。此外，观察到这两种基因变异对体重增加有累加效应（优势比：4.95，趋势检验：P = 0.05）。UCP 基因和β3-AR 基因变异的归因风险分别为 25%和 9%。
这些数据支持了能量平衡、棕色脂肪组织与人类体重增加之间可能存在联系的假说。
