The role of endothelial nitric oxide synthase gene G894T and intron 4 VNTR polymorphisms in hemodialysis patients with vascular access thrombosis

The Endothelial Nitric Oxide Synthase Gene Variants as a Risk Factor for Chronic Lymphocytic Leukemia

“…28 It was reported that carriers of the 4a allele had lower NO levels than 4b/4b homozygous subjects. 29 The impact of 4 a/b variant of the eNOS gene is still unclear, it has been declared that this variant would regulate the expression of the eNOS gene by the editing of small RNAs (siRNAs). 30 Phenotypic significance of the eNOS intron 4 a/b variant was evaluated in various conditions in previous studies.…”

Endothelial Nitric Oxide Synthase Gene Polymorphism. Part 2. Polymorphic Variants T786c, 4a/B

“…Так, H. B. Nasr et al [35] выявлен высокий риск раз-вития ожирения у лиц, имеющих в генотипе ал-лель 4b, в сравнении с носителями генотипа 4a4a (ОШ=1,72, 95% ДИ=1,16-2,56, р=0,004)), при этом корректировка с учетом антропометриче-ских параметров свидетельствует, что носители генотипа 4b4b имеют значительно более высо-кий индекс массы тела по сравнению с лицами, гомозиготными аллелю 4а (р=0,0004). Выявле-но, что аллель 4а ассоциирован с повышенным тромбозом артериовенозной фистулы у пациен-тов с хронической почечной недостаточностью [36]. В работе I. Sinici et al [37] установлено существенное различие в распределении гено-типов между пациентами с системным склеро-зом и лицами контрольной группы, в частности для генотипа 4а4а (3,4 и 17,1%, соответственно), при этом в доминантной модели ОШ=0,35, 95% ДИ=0,17-0,78, р=0,004, что свидетельствует о за-щитном эффекте аллеля «а» при вероятной пред-расположенности к данному заболеванию.…”

Genotype polymorphisms of genes regulating nitric oxide synthesis determine long-term arteriovenous fistula patency in male hemodialysis patients

“…The protocol for the PCR express thermal cycler was as follows: 12 min at 95 C, 30 cycles of 1 min at 95 C, 30 s at 60 C, 1 min at 72 C, and 8 min at 72 C. The amplified products were fractionated electrophoretically on a 2% agarose gel, visualized by ethidium bromide staining (0.5 mg/mL) and ultraviolet light detection. According to the previous literature reporting the associations with cardiovascular diseases and NO-related polymorphisms [9][10][11][12][13][14][15] and data provided in the HapMap (haplotype map), total 10 SNPs with specific primer sequences were selected and we have summarized the genotyping methods in Table 1. SNP genotyping was performed using restriction fragment length polymorphism and direct sequencing (allelic discrimination with TaqMan MGB probe by ABI 7700).…”

“…8 Although the impact of NO deficiency on the pathogenesis of AVF stenosis has been broadly studied, the causative factors of recurrent AVF malfunction necessitating repeated angioplasty still remain unknown in a significant proportion of HD patients, which may be attributed to the effect of genetic background. In addition, although the relevance of genetic polymorphism on NO metabolism and cardiovascular diseases has been largely reported, [9][10][11][12][13][14][15] little information is available on the role of NO related polymorphisms and the susceptibility to AVF malfunction. Moreover, although the observation that women have a poorer AVF patency than men has been previously reported, 16 not all studies showed the same disparity between gender and AVF survival, [17][18][19][20][21] and the gender difference in NO-related genetic background on AVF patency outcomes had been scarcely elucidated.…”