Maász Anita, Kisfali Péter, Horvatovich Katalin, Mohás Márton, Markó Lajos, Csöngei Veronika, Faragó Bernadett, Járomi Luca, Magyari Lili, Sáfrány Enikô, Sipeky Csilla, Wittmann István, Melegh Béla
Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.
Pathol Oncol Res. 2007;13(3):243-7. doi: 10.1007/BF02893505. Epub 2007 Oct 7.
The -1131C is a naturally occurring variant of the apolipoprotein A5 (ApoA5) gene, which has been shown to associate with increased triglyceride levels. This variant has also been shown to confer risk for development of ischemic heart disease and stroke. The gene is in linkage disequilibrium with factors known to correlate with impaired glucose homeostasis. These observations prompted us to study the prevalence of the ApoA5 -1131C allele in patients with metabolic syndrome. A total of 201 metabolic syndrome patients and 210 controls were studied. In both groups the triglyceride levels of patients with -1131C allele were significantly increased compared to the subjects with -1131T allele (3.22+/-0.43 mmol/l vs. 2.24+/-0.12 mmol/l, p<0.01 in the metabolic syndrome patients; 2.10+/-0.19 mmol/l vs. 1.22+/-0.05 mmol/l, p<0.01 in the controls). In metabolic syndrome patients the prevalence of the ApoA5 -1131C variant was increased compared to the healthy controls (11% vs. 6.20%). Multiplex regression analysis model adjusted for age, gender, serum total cholesterol levels, acute myocardial infarction and stroke events revealed that the examined ApoA5 variant confers risk for the development of metabolic syndrome: the odds ratio at 95% confidence interval was 3.622 (1.200-10.936), p=0.02. Our findings strongly suggest that this variant is a risk factor for the development of hypertriglyceridemia and metabolic syndrome.
-1131C是载脂蛋白A5(ApoA5)基因的一种自然发生的变体,已被证明与甘油三酯水平升高有关。该变体也被证明会增加患缺血性心脏病和中风的风险。该基因与已知与葡萄糖稳态受损相关的因素处于连锁不平衡状态。这些观察结果促使我们研究代谢综合征患者中ApoA5 -1131C等位基因的患病率。共研究了201例代谢综合征患者和210例对照。在两组中,携带-1131C等位基因的患者的甘油三酯水平均显著高于携带-1131T等位基因的受试者(代谢综合征患者中为3.22±0.43 mmol/L对2.24±0.12 mmol/L,p<0.01;对照组中为2.10±0.19 mmol/L对1.22±0.05 mmol/L,p<0.01)。与健康对照相比,代谢综合征患者中ApoA5 -1131C变体的患病率有所增加(11%对6.20%)。经年龄、性别、血清总胆固醇水平、急性心肌梗死和中风事件校正的多重回归分析模型显示,所检测的ApoA5变体增加了患代谢综合征的风险:95%置信区间的比值比为3.622(1.200 - 10.936),p = 0.02。我们的研究结果强烈表明,该变体是高甘油三酯血症和代谢综合征发生的危险因素。