HMG-CoA还原酶基因中的8302A/C和（TTA）n多态性可能与冠心病患者的某些血浆脂质代谢表型相关。
8302A/C and (TTA)n polymorphisms in the HMG-CoA reductase gene may be associated with some plasma lipid metabolic phenotypes in patients with coronary heart disease.
作者信息
Tong Yu, Zhang Sizhong, Li Hai, Su Zhiguang, Kong Xiangdong, Liu Hekun, Xiao Cuiying, Sun Yan, Shi Jia Jun
机构信息
Department of Medical Genetics, West China Hospital, Chengdu 610041, China.
出版信息
Lipids. 2004 Mar;39(3):239-41. doi: 10.1007/s11745-004-1225-3.
HMG-CoA reductase (HMGCR) is a rate-limiting enzyme that participates in cholesterol metabolism. Here we analyzed the 8302A/C and the (TTA)n polymorphisms in the HMGCR gene in 169 Chinese patients with coronary heart disease (CHD) and 161 age-matched controls. Results indicated that the levels of plasma VLDL and TG in patients with the AA genotype of the 8302A/C locus were significantly higher than in patients with other genotypes (P < 0.05). In addition, the frequency of allele A4 of the (TTA)n locus was higher (P < 0.05) and the frequency of allele A5 was lower (P = 0.002) in CHD patients than in the controls. This suggests that both polymorphisms in the HMGCR gene may be associated with lipid and lipoprotein abnormalities in CHD in the Chinese.
3-羟基-3-甲基戊二酰辅酶A还原酶（HMGCR）是参与胆固醇代谢的限速酶。我们分析了169例中国冠心病（CHD）患者和161例年龄匹配对照者HMGCR基因的8302A/C及（TTA）n多态性。结果显示，8302A/C位点AA基因型患者的血浆极低密度脂蛋白（VLDL）和甘油三酯（TG）水平显著高于其他基因型患者（P<0.05）。此外，与对照组相比，CHD患者（TTA）n位点A4等位基因频率较高（P<0.05），A5等位基因频率较低（P=0.002）。这表明HMGCR基因的这两种多态性可能与中国CHD患者的脂质和脂蛋白异常有关。
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