固醇调节元件结合蛋白-1c基因54G/C多态性与新疆维吾尔族冠心病的相关性

目的: 探讨固醇调节元件结合蛋白-1c（SREBP-1c）基因18号外显子54G/C基因多态性与新疆地区维吾尔族人群冠心病的相关性。方法: 采用聚合酶链反应-限制性片段长度多态性方法，对260例冠心病患者和256例健康体检者SREBP-1c基因18号外显子54G/C位点进行分析，同时进行血糖及血脂水平检测。结果: SREBP-1c基因18号外显子54G/C在冠心病组和健康对照组中基因型频率分别为:CC型0.146和0.051，CG型0.346和0.387，GG型:0.508和0.563，两组CC基因型差异具有统计学意义（P<0.05），且冠心病组C等位基因频率高于对照组（P<0.01），而GC和GG基因型差异无统计学意义。不同基因型间血糖、血脂水平差异具有统计学意义（P<0.05）。结论: 固醇调节元件结合蛋白-1c基因CC基因型和等位基因C与新疆维吾尔族人群冠心病有关联，并可影响患者的血糖、三酰甘油代谢。

Association between genetic polymorphism of sterol regulatory element-binding protein-1c and Uygur patients with coronary heart disease in Xinjiang

AIM: To investigate the association between the polymorphism of sterol regulatory element-binding protein-1c (SREBP-1c) and Uygur patients with coronary heart disease (CHD) in Xinjiang. METHODS: Two hundred and sixty patients with CHD and 256 healthy control subjects were detected by polymerase chain reaction-restriction fragment length polymorphism. Plasma lipid and glucose levels were also measured in all subjects. RESULTS: Genotype distribution of the control group and CHD group was in accordance with the Hardy-Weinberg equilibrium (χ2=3.45, 3.48, P<0.05). Frequencies of CC, GC and GG were 0.146, 0.346 and 0.508 in CHD group and 0.051, 0.387 and 0.563 in controls, respectively. There was a significant difference in frequencies of CC genotype and C allele but no difference in frequencies of GC and GG genotypes between controls and CHD cases. CONCLUSION: CC genotype and C allele of SREBP-1c may be a risk factor for CHD and has some significant influence on serum lipid and glucose levels in a Uygur nationality population in Xinjiang.