解耦联蛋白2基因外显子8的45bp插入/缺失多态及基因编码区Ala55 Val变异与静息能量消耗及肥胖的关系

An association study of resting energy expenditure, total and regional body fat with the polymorphism of UCP2 gene

目的 研究解耦联蛋白 2 (UCP2 )基因外显子 8的 4 5bp插入 /缺失多态 (Exon 8Ins/Del)及基因编码区Ala5 5Val(A5 5V)变异与静息能量消耗及体脂含量、分布的关系。方法 采用PCR及PCR RFLP方法检测5 7名正常体重者和 99名超重 /肥胖者的Exon 8Ins/Del多态位点和A5 5V变异位点。采用间接测热法测量静息能量消耗 ,生物电阻抗法 (BIA)及MRI测量体脂含量及分布 ,研究 2个变异位点与静息能量消耗及肥胖的关系。结果 ①校正年龄后女性Ins -者REE/kg显著低于Ins +者。②在超重 /肥胖者中Ins-者较Ins +者REE/kg显著降低 ,且肥胖程度更显著。③无论腹内型肥胖还是非腹内型肥胖Ins -者REE/kg均较Ins +者降低 ,以前者更甚。④肥胖组与正常对照组A5 5V变异频率的差异无显著性 ,但与女性REE/kg相关。结论①UCP2Exon8Ins/Del多态位点与女性REE/kg相关 ,Ins -者REE/kg显著低于Ins +者。②UCP2Exon 8Ins/Del多态位点与超重 /肥胖者REE/kg有关 ,参与其超重 /肥胖程度的不同。③无论腹内型肥胖还是非腹内型肥胖Ins -者REE/kg均较Ins+者降低 ,但以前者更甚。④UCP2A5 5V变异位点与女性REE/kg相关。

Objective To study the association of resting energy expenditure, total body fat, regional body fat with Exon 8 Ins/Del,Ala55Val polymorphism of UCP2 gene. Methods The Exon 8 Ins/Del,Ala55Val polymorphisms of UCP2 gene was detected by PCR and PCR-RFLP in 156 subjects with normal glucose tolerance and body mass index (BMI) 14.1～41.7 kg/m 2. Resting energy expenditure (REE) was determined, and fat-mass (FM), fat free mass (FFM) through bioelectrical impedence analysis(BIA) by indirect caloremetny. Visceral body fat area (VA), subcutaneous fat area (SA) and femoral fat area (FA) were measured by magnetic resonance imaging (MRI) in all 109 subjects. Results ① Exon 8 Ins/Del polymorphism of UCP2 gene was associated with REE/kg in women, REE/kg of I allele non-carriers(Ins-) was significantly lower than that of I allele carriers(Ins+),(P=0.04). ② Exon 8 Ins/Del polymorphism of UCP2 gene was associated with REE/kg in overweight/obesity(OW/OB) subjects, I allele non-carriers had lower REE/kg[(20.55±0.31) kcal/kg vs (22.00±0.57) kcal/kg,P<0.05] and higher BMI [(29.77±0.38) kg/m 2 vs (27.94±0.71) kg/m 2,P<0.05]together with FM[(30.88±1.03) kg vs (26.29± 1.94 ) kg,P< 0.05 ]than I allele carriers; ③ REE/kg of I allele non-carriers was lower than that of I allele carriers in both abdominal obesity group and non-abdominal obesity group, and the difference was more significant in abdominal obesity group. ④ The REE/kg in women who were VV genotype of A55V variant of UCP2 gene gene was higher than that of AV and AA. Conclusion ① UCP2 gene Exon 8 Ins/Del polymorphism is associated with REE/kg in women. REE/kg of I allele non-carriers is significantly lower than that of I allele carriers. ② UCP2 Exon 8 Ins/Del polymorphism is associated with REE/kg in OW/OB group. ③The influence of UCP2 Exon 8 Ins/Del polymorphism on REE/kg is associated with the type of OW/OB; ④ UCP2 A55V variant is associated with REE/kg in women. REE/kg is different among 3 genotypes.