Andrikovics, H. and Pongracz, E. and Kalina, A. and Sizilvasi, A. and Aslanidis, C. and Schmitz, G. and Tordai, Attila (2006) Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases. CEREBROVASCULAR DISEASES, 21 (4). pp. 254-259. ISSN 1015-9770, 1421-9786
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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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DENSITY-LIPOPROTEIN CHOLESTEROL; CORONARY-HEART-DISEASE; BINDING CASSETTE TRANSPORTER-1; FAMILIAL HYPERCHOLESTEROLEMIA; TRANSGENIC MICE; HDL CHOLESTEROL; TANGIER-DISEASE; GENE; COMMON; VARIANTS; ABCA1; cardiovascular disease; genetics; polymorphisms; risk factors; stroke |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 01 Mar 2021 10:19 |
| Last Modified: | 01 Mar 2021 10:19 |
| URI: | https://pred.uni-regensburg.de/id/eprint/35098 |
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