Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Bugert, P; Hoffmann, MM; Winkelmann, BR; Vosberg, M; Jahn, J; Entelmann, M; Katus, HA; März, W; Mansmann, U; Boehm, BO; Goerg, S; Klüter, H.
The variable number of tandem repeat polymorphism in the P-selectin glycoprotein ligand-1 gene is not associated with coronary heart disease.
J Mol Med. 2003; 81(8):495-501
Doi: 10.1007/s00109-003-0459-2
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- Co-Autor*innen der Med Uni Graz
- März Winfried
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- Abstract:
- Genes involved in inflammatory processes are candidates for predisposition to prothrombotic syndromes. The variable number of tandem repeat (VNTR) polymorphism in the P-selectin glycoprotein ligand (PSGL)-1 gene has been associated with ischemic cerebrovascular disease but not with coronary heart disease (CHD). We assessed the effect of the VNTR polymorphism on CHD in two independent case/control studies. In the first study 281 CHD patients and 397 healthy blood donors were genotyped for the VNTR alleles in PSGL-1. The prevalence of homozygous carriers of the PSGL-1 VNTR allele with 15 repeat units was significantly higher in the CHD patients (5.3% vs. 1.5%) than in controls, suggesting an effect of this marker in CHD. To validate the findings genotyping was performed in a second study including 2,578 CHD patients, 731 patients without CHD, and 1084 healthy blood donors. The larger case control study had a power of 99.9% to detect the initially observed difference but failed to confirm the putative role of PSGL-1 VNTR polymorphism in CHD. Frequencies of the PSGL-1 VNTR 15 repeats for homozygous carriers were 2.2% in healthy blood donors, 2.3% in patients without CHD and 2.7%, in CHD cases, respectively. These results demonstrate that the PSGL-1 VNTR polymorphism is not a genetic risk factor for CHD. Adequately powered studies are prerequisites to obtain reliable results about genotype-phenotype relationships of new candidate genes in complex diseases.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Alleles -
- Case-Control Studies -
- Coronary Disease - blood
- Female - blood
- Gene Frequency - blood
- Genetic Predisposition to Disease - blood
- Genotype - blood
- Humans - blood
- Male - blood
- Membrane Glycoproteins - blood
- Middle Aged - blood
- Minisatellite Repeats - blood
- Odds Ratio - blood
- Polymorphism, Genetic - blood
- Reverse Transcriptase Polymerase Chain Reaction - blood
- Find related publications in this database (Keywords)
- genetic risk
- cardiovascular disease
- LURIC study
- gene polymorphisms
- power calculation