Genetic insight into syncopal tilted population with severe clinical presentation
作者： Malgorzata Lelonek , Tadeusz Pietrucha , Monika Matyjaszczyk , Jan Henryk Goch
DOI: 10.1016/J.AUTNEU.2009.01.011
关键词: Population 、 GNB3 、 Polymorphism (computer science) 、 Single-nucleotide polymorphism 、 Restriction fragment length polymorphism 、 Allele 、 Lower risk 、 Immunology 、 Biology 、 Gene polymorphism
摘要: Abstract An impairment of cardiovascular reflexes may be the result functional alterations in G proteins intracellular signaling produced by genes' polymorphisms. The aim was to evaluate relationships between single nucleotide polymorphisms genes encoding G-proteins pathways and syncopal patients with severe clinical manifestation. Methods results From 307 free from any other diseases 83 (27%) had at least one malignant episode syncope a significant injury as fractures. There 1.9 spells per patient. All were tilted genotyped polymerase chain reaction followed restriction fragment length polymorphism method. 74 healthy volunteers negative history constituted control group also genotyped. Following detected: C393T gene alfa-subunit Gs-protein (GNAS1), C825T for G-protein beta 3 subunit (GNB3) C1114G cardiac regulator (RGS2). We found an association lower risk positive tilting during passive phase test compared NTG-enhanced (OR 0.38; 95% CI 0.15–0.95; P = 0.04). No difference controls alleles frequency (P > 0.05). Neither 393T allele GNAS1 825T GNB3 nor 1114G RGS2 associated enhanced manifestation Conclusions studied seem not connected syncope.
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