Association of endothelial nitric oxide synthase gene G894T polymorphism with essential hypertension in an adult Pakistani Pathan population

Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population

“…Four SNPs in the eNOS gene and their associations with susceptibility to EH in different populations have been previously investigated (Miyamoto et al, 1998;Benjafield et al, 2000;Hingorani, 2003;Zhao et al, 2006;Khawaja et al, 2007;Srivastava et al, 2008;Tang et al, 2008;Patkar et al, 2009;Li et al, 2011;Li, 2011;Men et al, 2011). To determine if these SNPs were also associated with susceptibility to EH in the Chinese Hui population, we analyzed the polymorphism of the eNOS gene at the loci rs2070744 (T>C) (also referred to as T786C), rs1799983 (G>T) (also referred to as G94T), rs1800780 (A>G), and rs3918181 (A>G) in 134 EH patients and 115 non-EH controls from the Hui population using a PCR-RFLP assay.…”

“…Statistical analysis demonstrated a significant difference in the genotype and allele frequencies of rs1799983 (G>T) (G894T) between EH patients and controls of Hui ethnicity (P > 0.05, Khawaja et al, 2007;Tang et al, 2008;Li, 2011;Men et al, 2011). Interestingly, a statistical difference in the genotype of rs1800780 locus was first found between the EH patients and control cohorts in the Chinese Hui population, where the genotype of AG was more frequent in the EH patients (P > 0.05, Table 3).…”

“…The specific DNA fragment was amplified for 30 cycles at 94°C for 30 s and 57°-62°C for 30 s (Table 1), with a final extension at 72°C for 10 min, using the BioRad MyCycler Thermal Cycler (BioRad Labo ratories, Hercules, CA, USA). PCR-RFLP analysis was employed for genotyping the 4 SNPs of the eNOS gene as previously described (Miyamoto et al, 1998;Benjafield et al, 2000;Hingorani, 2003;Khawaja et al, 2007;Srivastava et al, 2008;Tang et al, 2008;Patkar et al, 2009;Li et al, 2011;Li, 2011;Men et al, 2011); the primer sets used for PCR and restriction endonucleases used for digestion are listed in Tables 1 and 2. For PCR-RFLP analysis, the PCR products were purified using a PCR purification kit, followed by digestion with the restriction endonuclease NgoMIV, MspI, RsaI, and BanI ( Table 2).…”

“…These studies revealed genetic variations in TIM genes in the loci tested between the Chinese Hui population and other ethnic groups, including the Chinese Han population (Xu et al, 2011(Xu et al, , 2012a. Similarly, genetic association studies on the polymorphism of the eNOS gene and susceptibility to EH have indicated the existence of genetic variations in the eNOS gene among different ethnic populations (Benjafield et al, 2000;Chen et al, 2001;Zhao et al, 2006;Dell'Omo et al, 2007;Deng et al, 2007;Khawaja et al, 2007;Colomba et al, 2008;Periaswamy et al, 2008;Srivastava et al, 2008;Tang et al, 2008;Patkar et al, 2009;Li et al, 2011;Li, 2011;Men et al, 2011). These results may imply a genetic association of eNOS gene polymorphism with susceptibility to EH in the Chinese Hui group.…”

“…Nitric oxide (NO) is known to be able to diffuse from the vascular endothelium to the smooth muscle cells in the vessel wall, where it activates soluble guanylate cyclase, sequentially leading to the relaxation of the vascular smooth muscle cell and to vasodilatation. Recently, increasing evidence suggests that polymorphisms of the endothelial NO synthase (eNOS) gene are associated with human EH, and certain genetic variations have been found among different ethnicities (Miyamoto et al, 1998;Benjafield and , 2000;Jachymova et al, 2001;Zhao et al, 2006;Khawaja et al, 2007;Periaswamy et al, 2008;Srivastava et al, 2008;Tang et al, 2008;Patkar et al, 2009;Li et al, 2011;Li, 2011;Men et al, 2011). eNOS is expressed in the endothelium and is encoded by a gene located on chromosome 7q35-36, comprising 26 exons that span 21 kb (Bonnardeaux et al, 1995).…”