Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases
Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases
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DOI：
10.1159/000091223
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发表时间：
2006-01-01
影响因子：
2.9
通讯作者：
Tordai, A
中科院分区：
文献类型：
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作者：
Andrikovics, H;Pongrácz, E;Tordai, A
背景和目的：ABC转运蛋白A1(ABCA1)基因多态性可能改变血浆高密度脂蛋白(HDL)的调节，促进或保护血管疾病的发生。方法：对244例连续入选的无亲缘关系的缺血性卒中患者、150例冠心病患者和193例献血员进行ABCA1基因R219K、V771M和I883M等位基因频率分析。结果：与对照组(分别为30.8+/-4.7%和4.9+/-2.2%)相比，两组患者R219K和V771M的AFS均降低(卒中组分别为28.7+/-4.1%和3.1+/-1.6%，冠心病组分别为25.7+/-5.0%和1.3+/-1.3%)。在一组年龄在50岁以下的中风患者中，这两种变异的出现频率明显较低(分别为22.4+/-5.5和1.8+/-1.7%)。同样，在60岁以下的冠心病患者中，R219K和V771M的AFS降低(分别为22.6+/-和0+/-1.6%)。V771M几乎只在携带R219K等位基因的个体中发现(35/36)。结论：我们的数据证实了早期的观察结果，即ABCA1R219K和V771M多态可能与CHD的保护作用有关，并将其扩展到另一种重要的病理情况，即中风。
Background and Purpose: Genetic polymorphisms in ABC transporter A1 (ABCA1) may alter the regulation of plasma high-density lipoprotein (HDL), promoting or protecting from vascular diseases. Methods: We investigated 244 unrelated, consecutively enrolled patients with ischemic stroke, 150 patients with coronary heart disease (CHD) and 193 blood donors for allele frequencies (AFs) of three common ABCA1 polymorphisms (R219K, V771M and I883M). Results: Compared to controls (30.8 +/- 4.7 and 4.9 +/- 2.2%, respectively), decreased AFs were found in both patient groups for R219K and V771M (28.7 +/- 4.1 and 3.1 +/- 1.6% in stroke, and 25.7 +/- 5.0%; 1.3 +/- 1.3% in CHD patients, respectively). In a subset of stroke patients younger than 50, both variants occurred in significantly lower frequencies (22.4 +/- 5.5 and 1.8 +/- 1.7%, respectively). Similarly, among CHD patients younger than 60, AFs of R219K and V771M (22.6 +/- and 0 +/- 1.6%, respectively) were decreased. V771M was almost exclusively (35/36) found in individuals carrying the R219K allele. Conclusions: Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms may be associated with a protective role against CHD and extend those to another important pathologic condition, namely stroke.