INTRODUCTION: Systemic sclerosis (SSc) is characterised by disturbed vessel morphology and an overproduction of vascular endothelial growth factor (VEGF). The VEGF gene located on chromosome 6p21.3 has several polymorphisms. OBJECTIVE: To test the hypothesis that disturbed angiogenesis may be related to the genetic background of the VEGF gene. MATERIALS AND METHODS: EUSTAR centres included European Caucasian patients with SSc and matched controls with osteoarthritis. The VEGF gene was genotyped by polymerase chain reaction, followed by restriction enzyme analysis. The 634 C/T and 936 C/G mutations and an 18-base pair insertion/deletion at -2549 of the VEGF promoter region were tested. RESULTS: 416 patients with SSc and 249 controls were included in the study population. Of the patients with SSc, 42% had a diffuse cutaneous subtype, 16% had increased pulmonary arterial pressure and 61% had decreased carbon monoxide diffusion capacity. The genotype frequencies in the patients with SSc and in controls were in Hardy-Weinberg equilibrium. The allele and genotype frequencies of the polymorphisms did not differ between patients with SSc and controls. No association was found between these polymorphisms and disease phenotypes. CONCLUSION: This study shows that there is no association between the three selected functional VEGF polymorphisms and SSc.
INTRODUCTION:Systemic sclerosis (SSc) is characterised by disturbed vessel morphology and an overproduction of vascular endothelial growth factor (VEGF). The VEGF gene located on chromosome 6p21.3 has several polymorphisms. OBJECTIVE: To test the hypothesis that disturbed angiogenesis may be related to the genetic background of the VEGF gene. MATERIALS AND METHODS: EUSTAR centres included European Caucasian patients with SSc and matched controls with osteoarthritis. The VEGF gene was genotyped by polymerase chain reaction, followed by restriction enzyme analysis. The 634 C/T and 936 C/G mutations and an 18-base pair insertion/deletion at -2549 of the VEGF promoter region were tested. RESULTS: 416 patients with SSc and 249 controls were included in the study population. Of the patients with SSc, 42% had a diffuse cutaneous subtype, 16% had increased pulmonary arterial pressure and 61% had decreased carbon monoxide diffusion capacity. The genotype frequencies in the patients with SSc and in controls were in Hardy-Weinberg equilibrium. The allele and genotype frequencies of the polymorphisms did not differ between patients with SSc and controls. No association was found between these polymorphisms and disease phenotypes. CONCLUSION: This study shows that there is no association between the three selected functional VEGF polymorphisms and SSc.
Authors: Oliver Distler; Jörg H W Distler; Annette Scheid; Till Acker; Astrid Hirth; Janine Rethage; Beat A Michel; Renate E Gay; Ulf Müller-Ladner; Marco Matucci-Cerinic; Karl H Plate; Max Gassmann; Steffen Gay Journal: Circ Res Date: 2004-06-03 Impact factor: 17.367
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Authors: Oliver Distler; Angela Del Rosso; Roberto Giacomelli; Paola Cipriani; Maria L Conforti; Serena Guiducci; Renate E Gay; Beat A Michel; Pius Brühlmann; Ulf Müller-Ladner; Steffen Gay; Marco Matucci-Cerinic Journal: Arthritis Res Date: 2002-08-30
Authors: Nadia D Morgan; Ami A Shah; Maureen D Mayes; Robyn T Domsic; Thomas A Medsger; Virginia D Steen; John Varga; Mary Carns; Paula S Ramos; Richard M Silver; Elena Schiopu; Dinesh Khanna; Vivien Hsu; Jessica K Gordon; Heather Gladue; Lesley A Saketkoo; Lindsey A Criswell; Chris T Derk; Marcin A Trojanowski; Victoria K Shanmugam; Lorinda Chung; Antonia Valenzuela; Reem Jan; Avram Goldberg; Elaine F Remmers; Daniel L Kastner; Fredrick M Wigley; Pravitt Gourh; Francesco Boin Journal: Medicine (Baltimore) Date: 2017-12 Impact factor: 1.817