LPL基因S447X突变对中心性肥胖与血脂关系影响的双生子研究

目的在以一般人群为基础的中国双生子人群中,探讨脂蛋白脂酶(LPL)基因S447X突变对中心性肥胖与血脂关系的影响,从而有助于阐明血脂的影响因素和血脂异常的防治。方法基于双生子登记系统,对双生子进行问卷、体检、生化指标和S447X突变的检测。中心性肥胖定义为:男性腰围≥90 cm,女性腰围≥80 cm。结果在941对成人双生子中,中心性肥胖和三酰甘油(TG)、TG/高密度脂蛋白胆固醇(HDL)水平升高显著相关;按基因型分层后,无论是男性还是女性,在S447/S447基因型中,中心性肥胖与TG及TG/HDL水平升高均显著相关,但在S447X突变基因型中则均无明显相关。多因素的交互作用分析显示,S447X突变和中心性肥胖对HDL及TG/HDL具有显著的交互作用。在中心性肥胖不一致的同卵双生子(MZ)中,具有S447/S447基因型的中心性肥胖个体与腰围正常的另一个同胞相比,其TG、TG/HDL分别升高23.1%和22.8%;而具有S447X突变基因型的中心性肥胖的个体与腰围正常的另一个同胞相比,其TG、TG/HDL却分别下降4.5%和16.1%,且HDL显著升高了13.3%。结论LPL基因S447X突变可调节中心性肥胖与TG、HDL及TG/HDL的关系。

The Lipoprotein Lipase S447X Mutation is Associated with Serum Lipid Levels in Visceral Obesity: A Twin Study

Objective To investigate the impact of the lipoprotein lipase (LPL) S447Xmutation on the relationship between visceral obesity and serum lipids in a general population based twin cohort of China.Methods The twin subjects were collected based on the twin registry system of China.All twins were subjected to a standard questionnaire and physical examinations.PCR-RFLPmethod was used to detect the genotypes of S447Xmutation.Visceral obesity was classified as waist circumference ≥90 cm for male or ≥80 cm for female.Results Nine hundred and forty-one pairs of twins were eligible for analysis.TG, TG/HDLlevels were significantly higher in visceral obesity group than those in normal waist circumference group.In S447/S447 genotype, after stratification for genotype, TGand TG/HDLwere still higher in visceral obesity.However, for S447Xmutation genotype, there were no significant differences in these lipids.The interaction of S447Xmutation genotype and visceral obesity were statistically significant in HDLand TG/HDL.The genotype-environmental interactions were also tested in the visceral obesity discordant MZtwins.In S447/S447 genotype, twins with visceral obesity had significantly higher TGand TG/HDLthan normal waist circumference co-twin(increased 23.1% and 22.8% respectively).While in the S447Xmutation genotype, visceral obesity was related with lower TGand TG/HDL(decreased 4.5% and 16.1% respectively), and HDLincreased significantly (13.3%).Conclusion The results indicate that LPL S447Xmutation can modulate the relationship between visceral obesity and serum TG, HDLand TG/HDL.