中国人内源性高甘油三酯血症患者β2肾上腺素受体基因Arg16Gly多态性的研究  

Analysis of β2-adrenergic receptor gene （B2AR） Arg16Gly polymorphism in patients with endogenous hypertriglyceridemia in Chinese population

作　　者：吴红梅[1] 白怀[1] 范平[1] 刘瑞[2] 刘宇[3] 刘秉文[3] 

机构地区：[1]四川大学华西第二医院实验中心,成都610041 [2]华西医院人类疾病相关多肽研究室 [3]华西基础医学与法医学院生物化学与分子生物学教研室

出　　处：《中华医学遗传学杂志》2008年第1期50-54,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（39720322）;四川大学华西第二医院科研启动基金 志谢 吴兆丰、方定志教授,张蓉副教授,张荣爵实验师,姚佳及徐燕华同学在对象选择、血脂及载脂蛋白测定中做了大量工作,谨此致谢

摘　　要：目的研究恳肾上腺素受体（β2-adrenergic receptor，SAR）基因Arg16Gly多态性是否与中国人内源性高甘油三酯血症（hypertriglyceridemia，HTG）有关联，为探讨本病的分子遗传基础提供依据。方法应用聚合酶链反应．限制性片段长度多态性分析法，对成都地区341名汉族人（241名正常人及100例HTG患者B2AR基因Arg16Gly多态性位点进行分析。结果中国人B2AR基因Arg16Gly多态位点Gly等位基因频率为0．446，与日本人的0．505相近，较美国白人的0．248显著增高，而低于欧洲波兰人的0．633。HTG组和对照组之间B2AR们基因Arg16Gly位点Gly等位基因的频率差异无统计学意义（0．490vs0．427，P〉0．05）。在正常对照组，Arg／Arg基因型携带者血清TG水平显著高于Arg/Gly基因型携带者[（1．24±0．36）mmol／Lvs（1．13±0．34）mmol／L，P〈0．05]，而与Gly／Gly基因型携带者比较，其血清apoB100显著增高（P〈0．01），apoAⅡ显著降低（P〈0．05）。HTG组Arg/Arg基因型携带者血清TC及低密度脂蛋白胆固醇水平较Gly／Gly基因型者显著升高[（5．36±0．74）mmol／Lvs（4．77±1．07）rmnol／L，P〈0．05；（3．03±0．70）mmol／Lvs（2．38±1．10）mmol／L，P〈0．05]。结论 B2AR基因Arg16Gly多态性不仅与成都地区正常汉族人血清TG、apoB100和apoAⅡ含量有关，而且还与内源性高甘油三酯血症患者血清TC和低密度脂蛋白胆固醇水平相关联，Arg16Gly多态性可能在影响中国汉族人血清甘油三酯和（或）胆固醇的代谢中起一定的作用。Objective To investigate the Arg16Gly polymorphism of β2-adrenergic receptor （B2AR） gene and its association with endogenous hypertriglyceridemia （HTG） in Chinese population. Methods Three hundred and forty one subjects including 100 HTG patients and 241 healthy controls from a popuation of Chinese Han nationality in Chengdu area were studied using polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLPs）. Results The frequencies of Gly allele at the Arg16Gly locus in combined group was 0.446, and were 0.427 and 0.490 in normal and HTG group, respectively. No significant difference was found in both allele and genotype frequencies between normal control and HTG group. The frequency of Gly allele at the Arg16Gly locus in β2-adrenergic receptor gene in the population （0. 446） was similar to that of Japanese （0. 505）, higher than that of American white（ 0. 248）, and lower than that of Polish population （0.633）. In normal controls, subjects with genotype Arg/Arg had a higher concentration of serum TG and apoB100, and lower apoA Ⅱ levels, when compared with those with genotypes Arg/Gly or Gly/Gly, respectively （vs. Arg/Gly for TG, vs. Gly/Gly for apoB100 and apoA Ⅱ, respectively, P 〈 0.05）. In HTG group, subjects with genotype Arg/Arg had higher serum TC and low-density lipoprotein cholesterol levels when compared with those with Gly! Gly genotype （5.36 ± 0.74 mmol/L vs. 4.77 ± 1.07 mmol/L, P 〈 0.05 ; 3.03 ± 0.70 mmol/L vs. 2.38 ± 1.10 mmol/ L, P 〈 0.05）. Conclusion These results suggest that the Arg16Gly polymorphism in β2-adrenergic receptor gene are not only associated with sermn TG,apoB100 and apoA Ⅱ levels in the healthy Chinese subjects in Chengdu area, but also with serum TC and low-density lipoprotein cholesterol levels in subjects with endogenous hypertriglyceridemia. The Arg16Gly polymorphism in β2-adrenergic receptor gene may be associated with TG and/or cholesterol metabolism in Chinese Han population.

关 键 词：内源性高甘油三酯血症 Β2肾上腺素受体 遗传多态性 

分 类 号：R589.2[医药卫生—内分泌]