Wu Yin, Bai Huai, Liu Rui, Liu Yu, Liu Bing-wen
Unit of Laboratory Medicine, West China Second Hospital of Sichuan University, Chengdu, Sichuan, 610041 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):177-81.
To investigate the variations of ATP binding cassette A1 (ABCA1) gene and its relation to endogenous hypertriglyceridemia (HTG) in Chinese population.
A total of three hundred and nine subjects (one hundred and nine endogenous hypertriglyceridemics and 200 healthy controls) from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphism (RFLP) amplified by polymerase chain reaction (PCR).
The frequency of K allele at R219K site 0.472 and 0.436 in normal and HTG group, respectively. No significant difference between normal control and HTG group was found in both allele and genotype frequencies. In both normal and HTG groups, subjects with genotype KK had a higher serum mean concentration of high density lipoprotein-cholesterol (HDL-C) when compared with those with genotype RR, respectively (1.48+/-0.45 mmol/L vs 1.27+/-0.29 mmol/L, P<0.05; 1.07+/-0.30 mmol/L vs 0.87+/-0.19 mmol/L, P<0.05). In normal group, subjects with genotype RK had a lower triglyceride (TG) level compared with those with genotype RR (1.22+/-0.37 mmol/L vs 1.41+/-0.84 mmol/L, P<0.05). In addition, the subjects carrying K allele in HTG group had a decreased total cholesterol (TC)/HDL-C ratio compared with those with genotype RR (KK vs RK vs RR: 4.82+/-1.28 vs 5.42+/-1.62 vs 6.33+/-1.70, P<0.05).
These results suggest that R219K polymorphism in ABCA1 gene is not only associated with serum HDL-C and TG levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level and TC/HDL-C ratio in subjects with endogenous HTG.
研究中国人群中ATP结合盒转运体A1（ABCA1）基因的变异及其与内源性高甘油三酯血症（HTG）的关系。
采用聚合酶链反应（PCR）扩增的限制性片段长度多态性（RFLP）方法，对成都地区汉族人群中的309名受试者（109名内源性高甘油三酯血症患者和200名健康对照）进行研究。
正常组和HTG组R219K位点K等位基因频率分别为0.472和0.436。正常对照组和HTG组在等位基因和基因型频率上均未发现显著差异。在正常组和HTG组中，基因型为KK的受试者血清高密度脂蛋白胆固醇（HDL-C）平均浓度分别高于基因型为RR的受试者（1.48±0.45 mmol/L对1.27±0.29 mmol/L，P<0.05；1.07±0.30 mmol/L对0.87±0.19 mmol/L，P<0.05）。在正常组中，基因型为RK的受试者甘油三酯（TG）水平低于基因型为RR的受试者（1.22±0.37 mmol/L对1.41±0.84 mmol/L，P<0.05）。此外，HTG组携带K等位基因的受试者总胆固醇（TC）/HDL-C比值低于基因型为RR的受试者（KK对RK对RR：4.82±1.28对5.42±1.62对6.33±1.70，P<0.05）。
这些结果表明，ABCA1基因R219K多态性不仅与成都地区健康中国受试者的血清HDL-C和TG水平有关，还与内源性HTG受试者的HDL-C水平和TC/HDL-C比值有关。
