Wu Hong-mei, Bai Huai, Fan Ping, Liu Rui, Liu Yu, Liu Bing-wen
West China Second Hospital, Sichuan University, Chengdu, Sichuan, 610041 People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):50-4.
To investigate the Arg16Gly polymorphism of beta2-adrenergic receptor (beta2AR) gene and its association with endogenous hypertriglyceridemia (HTG) in Chinese population.
Three hundred and forty one subjects including 100 HTG patients and 241 healthy controls from a population of Chinese Han nationality in Chengdu area were studied using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs).
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 beta2-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 apoAII levels, when compared with those with genotypes Arg/Gly or Gly/Gly, respectively (vs. Arg/Gly for TG, vs. Gly/Gly for apoB100 and apoAII, 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).
These results suggest that the Arg16Gly polymorphism in beta2-adrenergic receptor gene are not only associated with serum TG,apoB100 and apoAII 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 beta2-adrenergic receptor gene may be associated with TG and/or cholesterol metabolism in Chinese Han population.
研究β2-肾上腺素能受体(β2AR)基因的Arg16Gly多态性及其与中国人群内源性高甘油三酯血症(HTG)的关系。
采用聚合酶链反应-限制性片段长度多态性(PCR-RFLPs)技术,对成都地区341名中国汉族受试者进行研究,其中包括100例HTG患者和241名健康对照者。
联合组中Arg16Gly位点Gly等位基因频率为0.446,正常组和HTG组分别为0.427和0.490。正常对照组与HTG组之间的等位基因和基因型频率均无显著差异。该人群β2-肾上腺素能受体基因中Arg16Gly位点的Gly等位基因频率(0.446)与日本人(0.505)相似,高于美国白人(0.248),低于波兰人群(0.633)。在正常对照组中,与Arg/Gly或Gly/Gly基因型的受试者相比,Arg/Arg基因型的受试者血清TG和apoB100浓度较高,而apoAII水平较低(TG分别与Arg/Gly相比,apoB100和apoAII分别与Gly/Gly相比,P<0.05)。在HTG组中,与Gly/Gly基因型的受试者相比,Arg/Arg基因型的受试者血清TC和低密度脂蛋白胆固醇水平较高(5.36±0.74 mmol/L对4.77±1.07 mmol/L,P<0.05;3.03±0.70 mmol/L对2.38±1.10 mmol/L,P<0.05)。
这些结果表明,β2-肾上腺素能受体基因的Arg16Gly多态性不仅与成都地区健康中国受试者的血清TG、apoB100和apoAII水平有关,还与内源性高甘油三酯血症受试者的血清TC和低密度脂蛋白胆固醇水平有关。β2-肾上腺素能受体基因的Arg16Gly多态性可能与中国汉族人群的TG和/或胆固醇代谢有关。