Polymorphisms in the P-selectin (CD62P) and P-selectin glycoprotein ligand-1 (PSGL-1) genes and coronary heart disease

Verfasser / Beitragende:
[Peter Bugert, Marion Vosberg, Mathias Entelmann, Jürgen Jahn, Hugo A. Katus, Harald Klüter]
Ort, Verlag, Jahr:
2004
Enthalten in:
Clinical Chemistry and Laboratory Medicine, 42/9(2004-09-01), 997-1004
Format:
Artikel (online)
ID: 378904728
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024 7 0 |a 10.1515/CCLM.2004.202  |2 doi 
035 |a (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.202 
245 0 0 |a Polymorphisms in the P-selectin (CD62P) and P-selectin glycoprotein ligand-1 (PSGL-1) genes and coronary heart disease  |h [Elektronische Daten]  |c [Peter Bugert, Marion Vosberg, Mathias Entelmann, Jürgen Jahn, Hugo A. Katus, Harald Klüter] 
520 3 |a P-selectin and its ligand, PSGL-1, are cell adhesion molecules that facilitate interaction of platelets, leukocytes and endothelial cells. Polymorphisms of these genes have been reported to be associated with coronary heart disease (CHD). In the present study, we characterized the entire coding regions of P-selectin and PSGL-1 genes in CHD patients and healthy controls. The 17 exons of the P-selectin gene and exon 2 of the PSGL-1 gene were screened for single nucleotide polymorphisms (SNPs) by exon re-sequencing in 88 CHD patients and 96 controls. For rapid genotyping of the SNPs we developed PCR techniques with sequence-specific primers (PCR-SSP). By using PCR-SSPs we genotyped 261 CHD patients and 214 controls for 5 SNPs in P-selectin and 2 SNPs in PSGL-1. In addition to the already described SNPs in P-selectin (S290N, N562D, V599L and T715P), we identified a novel SNP in exon 5 (V168M). The P-selectin 715P allele was more frequent among CHD patients with hypercholesterolemia compared to patients with normal cholesterol levels. A SNP (M62I) in the PSGL-1 gene was found close to the P-selectin binding site and the 62I allele revealed a higher prevalence in the control group indicating a protective effect of the mutation. The molecular characterization of P-selectin and PSGL-1 in a case-control study including CHD patients and healthy controls revealed evidence for association of the genes with development of the disease. However, the functional role of the gene variants should be elucidated by further experimental data. 
540 |a © Walter de Gruyter 
690 7 |a Medical equipment & techniques  |2 nationallicence 
690 7 |a Medical diagnosis  |2 nationallicence 
690 7 |a Diseases & disorders  |2 nationallicence 
690 7 |a allele-specific PCR  |2 nationallicence 
690 7 |a coronary heart disease  |2 nationallicence 
690 7 |a exon re-sequencing  |2 nationallicence 
690 7 |a hypercholesterolemia  |2 nationallicence 
690 7 |a single nucleotide polymorphisms  |2 nationallicence 
700 1 |a Bugert  |D Peter  |u Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg - Hessia, Ruprecht Karls-University Heidelberg, Faculty of Clinical Medicine Mannheim, Mannheim, Germany  |4 aut 
700 1 |a Vosberg  |D Marion  |u Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg - Hessia, Ruprecht Karls-University Heidelberg, Faculty of Clinical Medicine Mannheim, Mannheim, Germany  |4 aut 
700 1 |a Entelmann  |D Mathias  |u Medical Clinic II, University of Lübeck Medical School, Lübeck, Germany  |4 aut 
700 1 |a Jahn  |D Jürgen  |u Clinic of Internal Medicine, The Borromäus Hospital of Leer, Leer, Germany  |4 aut 
700 1 |a Katus  |D Hugo A.  |u Department of Internal Medicine III, University Hospital of Heidelberg, Heidelberg, Germany  |4 aut 
700 1 |a Klüter  |D Harald  |u Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg - Hessia, Ruprecht Karls-University Heidelberg, Faculty of Clinical Medicine Mannheim, Mannheim, Germany  |4 aut 
773 0 |t Clinical Chemistry and Laboratory Medicine  |d Walter de Gruyter  |g 42/9(2004-09-01), 997-1004  |x 1434-6621  |q 42:9<997  |1 2004  |2 42  |o cclm 
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950 |B NATIONALLICENCE  |P 700  |E 1-  |a Vosberg  |D Marion  |u Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg - Hessia, Ruprecht Karls-University Heidelberg, Faculty of Clinical Medicine Mannheim, Mannheim, Germany  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Entelmann  |D Mathias  |u Medical Clinic II, University of Lübeck Medical School, Lübeck, Germany  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Jahn  |D Jürgen  |u Clinic of Internal Medicine, The Borromäus Hospital of Leer, Leer, Germany  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Katus  |D Hugo A.  |u Department of Internal Medicine III, University Hospital of Heidelberg, Heidelberg, Germany  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Klüter  |D Harald  |u Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg - Hessia, Ruprecht Karls-University Heidelberg, Faculty of Clinical Medicine Mannheim, Mannheim, Germany  |4 aut 
950 |B NATIONALLICENCE  |P 773  |E 0-  |t Clinical Chemistry and Laboratory Medicine  |d Walter de Gruyter  |g 42/9(2004-09-01), 997-1004  |x 1434-6621  |q 42:9<997  |1 2004  |2 42  |o cclm 
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