title: [Pathogenetic significance of C774T single nucleotide polymorphism of the endothelial NO synthase gene in the development of metabolic syndrome].
abstract: The relationship between nitric oxide production and metabolic disorders and the role of endothelial nitric oxide synthase (eNOS or NOS3) in metabolic syndrome (MS) remain poorly understood and need deeper investigation. In this context the role of the NOS3 gene in pathogenesis of MS is of special interest. The aim of the study was to investigate association of NOS3 single nucleotide polymorphism C774T with risk of MS in the Slavic population of the Kaliningrad region and the relationship of this polymorphic variant with some parameters of endothelial dysfunction. The study included 128 patients (48 men and 80 women aged from 36 to 52 years) with MS. The control group consisted of 126 healthy volunteers (60 men and 66 women aged from 30 to 40 years). Genotyping was performed by real-time PCR. Serum nitrite levels were determined spectrophotometrically by the Griess method. Serum levels of endothelin-1 and eNOS were evaluated by ELISA. The study has shown association of T allele (OR=2.06; p=0.0004; CI: 1.38-3.08) and CT genotype (OR=1.97; p=0.014; CI: 1.14-3.40 ) C774T polymorphism of the NOS3 gene with risk of MS in the Slavic population of the Kaliningrad region. Allele C (OR=0.48; p=0.0004; CI: 0.32-0.72) and homozygous CC genotype (OR=0.41; p=0.001; CI: 0.24-0,69) C774T polymorphism of the NOS3 gene were associated with reduced risk of the development of MS. Significant differences in serum levels of eNOS and endothelin-1 depended on the CT and TT genotypes of C774T polymorphism of the NOS3 gene in MS.
authors: Immanuel Kant Baltic Federal University, Kaliningrad, Russia.
authors: N S
authors: NS
authors: Fattakhov
authors: Immanuel Kant Baltic Federal University, Kaliningrad, Russia.
authors: M A
authors: MA
authors: Vasilenko
authors: Immanuel Kant Baltic Federal University, Kaliningrad, Russia.
authors: D A
authors: DA
authors: Skuratovskaia
authors: Immanuel Kant Baltic Federal University, Kaliningrad, Russia.
authors: D I
authors: DI
authors: Kulikov
authors: Immanuel Kant Baltic Federal University, Kaliningrad, Russia.
authors: E V
authors: EV
authors: Kirienkova
authors: Regional Clinical Hospital of the Kaliningrad Region, Kaliningrad, Russia.
authors: P A
authors: PA
authors: Zatolokin
authors: Municipal Children's Hospital No. 6, Kaliningrad, Russia.
authors: M A
authors: MA
authors: Beletskaya
authors: Immanuel Kant Baltic Federal University, Kaliningrad, Russia.
authors: L S
authors: LS
authors: Litvinova
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D019332:Endothelin-1 / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D052250:Nitric Oxide Synthase Type III / Q000097:blood / Q000235:genetics*; D009573:Nitrites / Q000097:blood; D020641:Polymorphism, Single Nucleotide
chemical_list: D019332:Endothelin-1; D009573:Nitrites; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III
keywords: C774T single nucleotide polymorphism; endothelial NO synthase; metabolic syndrome; nitric oxide