Andrikovics Hajnalka, Pongrácz Endre, Kalina Ethkos, Szilvási Anikó, Aslanidis Charalampos, Schmitz Gerd, Tordai Attila
Department of Molecular Genetics, National Medical Center, Budapest, Hungary.
Cerebrovasc Dis. 2006;21(4):254-9. doi: 10.1159/000091223. Epub 2006 Jan 27.
Genetic polymorphisms in ABC transporter A1 (ABCA1) may alter the regulation of plasma high-density lipoprotein (HDL), promoting or protecting from vascular diseases.
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).
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 +/- 7.5 and 0 +/- 1.6%, respectively) were decreased. V771M was almost exclusively (35/36) found in individuals carrying the R219K allele.
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.
ATP结合盒转运蛋白A1（ABCA1）的基因多态性可能改变血浆高密度脂蛋白（HDL）的调节，从而促进或预防血管疾病。
我们调查了244例连续入选的无亲缘关系的缺血性中风患者、150例冠心病（CHD）患者和193名献血者，以检测三种常见ABCA1多态性（R219K、V771M和I883M）的等位基因频率（AFs）。
与对照组（分别为30.8±4.7和4.9±2.2%）相比，两个患者组中R219K和V771M的AFs均降低（中风患者中分别为28.7±4.1和3.1±1.6%，CHD患者中分别为25.7±5.0%；1.3±1.3%）。在年龄小于50岁的中风患者亚组中，这两种变异的发生率均显著降低（分别为22.4±5.5和1.8±1.7%）。同样，在年龄小于60岁的CHD患者中，R219K和V771M的AFs（分别为22.6±7.5和0±1.6%）也降低。V771M几乎只在携带R219K等位基因的个体中发现（35/36）。
我们的数据证实了早期的观察结果，即ABCA1的R219K和V771M多态性可能对CHD具有保护作用，并将这些结果扩展到另一种重要的病理状况，即中风。
