Author/Editor     Marčun-Varda, Nataša
Title     Vloga nekaterih genetskih dejavnikov pri nastanku esencialne arterijske hipertenzije pri otrocih in mladih odraslih
Type     monografija
Place     Ljubljana
Publisher     Univerza v Ljubljani, Medicinska fakulteta
Publication year     2006
Volume     str. 82
Language     slo
Abstract     Introduction. Essential hypertension (EH) is a common, chronic, multifactorial disorder influenced by heterogeneous genetic and environmental factors. Recent advances in molecular genetics have enabled research into the genetic basis of this complex trait but the results have been conflicting. In genetic studies in adults with EH a considerable number of candidate genes for the development of EH have been proposed and several genomic regions have been identified, in which furCber studies are needed. In children, in whom genetic factors may be relatively more important than environmental ones, only few genetic studies have been performed. In our study the role of four potential genetic factors (polymorphisms in genes for alpha-adducin - ADD1, beta-adducin -ADD2, the G-protein beta 3 subunit GNB3 and endothelial nitric oxide synthase -NOS3) in Slovenian children and young adults with EH was investigated. These candidate genes were selected because previous reports indicated that their products affect the investigated phenotype - blood pressure. In addition, their role in children was not studied until now. The presence of other factors, described as cardiovascular risk factors, in our children and young adults with EH was also evaluated in the search for additional cardiovascular risk. Methods. A total of 104 children and young adults, diagnosed with EH, were included in our study. Genotyping of common polymorphisms in these genes (G460W polymorphism in ADDI, C1797T in ADD2, C825T in GNB3 and E298D in NOS3) using the polymerase chain reaction (PCR) method was carried out in 104 nuclear families (an affected child, both parents) and in 200 healthy control patients. Both the nuclear families approach and a case control study were performed. (Abstract truncated at 2000 characters)
Descriptors     HYPERTENSION
POLYMORPHISM (GENETICS)
NITRIC-OXIDE SYNTHASE
GENOTYPE
PHENOTYPE
CHILD
ADULT
ALLELES
HOMOCYSTEINE
RISK FACTORS
BODY MASS INDEX
LIPOPROTEINS
INSULIN
BLOOD GLUCOSE
FIBRINOGEN