Document Detail

Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases.
MedLine Citation:
PMID:  16446539     Owner:  NLM     Status:  MEDLINE    
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 +/- 7.5 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.
Hajnalka Andrikovics; Endre Pongrácz; Ethkos Kalina; Anikó Szilvási; Charalampos Aslanidis; Gerd Schmitz; Attila Tordai
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-01-27
Journal Detail:
Title:  Cerebrovascular diseases (Basel, Switzerland)     Volume:  21     ISSN:  1015-9770     ISO Abbreviation:  Cerebrovasc. Dis.     Publication Date:  2006  
Date Detail:
Created Date:  2006-03-14     Completed Date:  2006-05-11     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9100851     Medline TA:  Cerebrovasc Dis     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  254-9     Citation Subset:  IM    
Department of Molecular Genetics, National Medical Center, Budapest, Hungary.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*
Aged, 80 and over
Angina Pectoris / genetics*
Gene Frequency
Middle Aged
Myocardial Infarction / genetics*
Polymorphism, Genetic
Stroke / genetics*
Reg. No./Substance:
0/ATP binding cassette transporter 1; 0/ATP-Binding Cassette Transporters

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