caa a22 4500 378904728 CHVBK 20180305123527.0 cr unu---uuuuu 161128e20040901xx s 000 0 eng 10.1515/CCLM.2004.202 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.202 Polymorphisms in the P-selectin (CD62P) and P-selectin glycoprotein ligand-1 (PSGL-1) genes and coronary heart disease [Elektronische Daten] [Peter Bugert, Marion Vosberg, Mathias Entelmann, Jürgen Jahn, Hugo A. Katus, Harald Klüter] 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. © Walter de Gruyter Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence allele-specific PCR nationallicence coronary heart disease nationallicence exon re-sequencing nationallicence hypercholesterolemia nationallicence single nucleotide polymorphisms nationallicence Bugert Peter 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 aut Vosberg Marion 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 aut Entelmann Mathias Medical Clinic II, University of Lübeck Medical School, Lübeck, Germany aut Jahn Jürgen Clinic of Internal Medicine, The Borromäus Hospital of Leer, Leer, Germany aut Katus Hugo A. Department of Internal Medicine III, University Hospital of Heidelberg, Heidelberg, Germany aut Klüter Harald 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 aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/9(2004-09-01), 997-1004 1434-6621 42:9<997 2004 42 cclm https://doi.org/10.1515/CCLM.2004.202 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2004.202 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bugert Peter 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 aut NATIONALLICENCE 700 1- Vosberg Marion 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 aut NATIONALLICENCE 700 1- Entelmann Mathias Medical Clinic II, University of Lübeck Medical School, Lübeck, Germany aut NATIONALLICENCE 700 1- Jahn Jürgen Clinic of Internal Medicine, The Borromäus Hospital of Leer, Leer, Germany aut NATIONALLICENCE 700 1- Katus Hugo A. Department of Internal Medicine III, University Hospital of Heidelberg, Heidelberg, Germany aut NATIONALLICENCE 700 1- Klüter Harald 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 aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/9(2004-09-01), 997-1004 1434-6621 42:9<997 2004 42 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter