The low plasma nitric oxide concentrations and reduced vascular reactivity are considered major proatherogenic mechanisms in cardiovascular diseases. The present study aimed to assess the allelic frequency and the genotypic distribution of the Glu298Asp gene polymorphism at exon 7 of endothelial nitric oxide synthase (eNOS) gene in Turkish ischemic stroke patients compared to appropriate healthy controls, and to correlate the genetic findings with stroke subtypes. The study population included 146 (75 males, 71 females) patients with ischemic stroke which were categorized according to the Trial of ORG 10172 in Acute Stroke Treatment (TOAST) and 133 (34 males, 99 females) healthy subjects. The eNOS polymorphism was identified with a PCR followed by RFLP with the restriction enzyme BanII. Genotypes were defined as GG, GT, and TT according to the presence of the G and T alleles. In this case-control study, we did not find any significant difference in either the genotypic distribution or allelic frequency of Glu298Asp gene polymorphism between the patients and the controls. In addition, there was also no significant difference for the genotype distribution and the allelic frequency among the stroke subtypes. The results suggested the lack of the association between the Glu298Asp gene polymorphism and ischemic stroke or subtypes of ischemic stroke in the Turkish population.
Hypertension is immensely common in Turkish subjects in Trakya region. The renin angiotensin system (RAS) helps maintain blood pressure and salt homeostasis and appears important in the pathogenesis of hypertension. Angiotensin I-converting enzyme (ACE) is a key component of RAS. Insertion/Deletion (I/D) polymorphism of the ACE gene has been implicated in the pathogenesis of cardiovascular diseases. In addition to this, the association between ACE I/D polymorphism and hypertension is controversial, when numerous studies have addressed the role of ACE I/D polymorphism in the development of hypertension, there were different studies showed that no correlation has been found between ACE I/D polymorphism and in the development of hypertension. The objective of our study was to investigate the relation between the ACE gene I/D polymorphism and primary hypertension in Turkish subjects in Trakya region. We analyzed the ACE gene I/D polymorphism in 79 patients with primary hypertension as a primary hypertensive group and 38 age matched healthy individuals as a control group by using a polymerase chain reaction assay, and agarose gel electrophoresis system. The genotype distributions were not different between the patients and normal control groups in the men. But the frequency of ACE Deletion/Deletion (DD) genotype in patients with primary hypertension (35.5%) was significantly higher than in controls (21.4%) in the women. This result suggested that ACE DD genotype may be associated with primary hypertension in the women, not in the men, and showed the possibility of ACE DD genotype as a potent risk factor for primary hypertension for the women not for the men.
Calcific aortic valve disease (CAVD) is a multifactorial condition. Both environmental andgenetic factors play an important role in its etiology. CAVD exhibits a broad spectrum, varying frommild valve thickening to severe valve calcification and stenosis. Progression of the disease consistsof chronic inflammation, lipoprotein deposition, and active leaflet calcification. It is a process similarto coronary artery disease. In this study, we investigated Lp(a) levels and gene polymorphismsassociated with calcific aortic stenosis from blood samples after echocardiography in the evaluationof 75 patients diagnosed with CAVD and 77 controls. Blood tests were run in our laboratory to ruleout certain risk factors before echocardiography examination. A significant association amongsmoking, elevated LDL level and creatinine, low albumin levels, Lp(a) level, rs10455872, andrs3798220 polymorphisms may be considered genetic risk factors for the development of calcificaortic stenosis.
Coronary artery disease (CAD) is one of the frequent cardiovascular mortality causes in the world. Common risk factors explain only about half the risk of CAD. The healthy familial predisposition to CAD, combined with advances in genetic analysis, has led to a number of studies in recent years making an effort to identify the genetic factors that influence the risk. The approach taken by most studies was to examine the association of naturally occurring genetic polymorphisms in candidate genes with risk of or severity of CAD. Endothelial nitric oxide synthase (eNOS) is important for vascular and tissue protection and is found in endothelial cells that encompass the entire vasculature, including the vessels in the heart. Nitric oxide (NO) is produced in a catabolic reaction in the endothelial cells, neurons, glia and macrophages by nitric oxide synthase (NOS) isoenzymes. eNOS is a subgroup of this family of enzymes that catalyses the production of nitric oxide (NO) from L-arginine and oxygen, which leads to vascular relaxation by activating the guanylate cyclase. This finally induces smooth muscle relaxation. The aim of this study was to investigate the allelic frequency and the genotypic distribution of the variable number of tandem repeat 27 (27 VNTR) gene polymorphism in intron 4 of the eNOS (eNOS 4a/b) gene in Thrace region, to compare CAD patients with appropriate healthy controls and to correlate the genetic findings with CAD subtypes. The study group included 281 (153 subjects with CAD and 128 controls) patients. The eNOS polymorphism was identified with a polymerase chain reaction. Genotypes were defined as aa, ab and bb according to the presence of a and b alleles. In this case–control study, we found that there was sensible correlation between eNOS gene intron 4a/b VNTR polymorphism and the risk of CAD in Thrace region of Turkey. However, there was no major difference for the genotype distribution and the allelic frequency among the CAD subtypes. Further studies on the interaction of such genes are needed to clarify the association between eNOS 4a/b polymorphism and CAD patients.
Genetic determinations of human essential (primary) hypertension are discussed by reviewing the candidate genes. Angiotensinogen (AGT) gene, coding the precursor of potent vasoactive hormone angiotensin II, in renin-angiotensin-system (RAS) has been reported to be associated with the onset of hypertension. The aim of this study was to investigate the role of variation in the 174 and 235 sites in exon 2 in AGT gene in the developing of primary hypertension in Turkish subjects from Trakya region. Our study involved 136 subjects, 84 hypertensive and 52 gender and age matched controls. T174M and M235T polymorphisms of the AGT gene were investigated using allele specific polymerase chain reaction (PCR) assay, and restriction fragment length polymorphism (RFLP). The frequency of genotypes of the variant T174M in the patients with primary hypertension was TT=%73.8, TM=%26.2, and MM=%0.0, that were not different from the controls TT=%73.1, TM=%25.0, and MM=%1.9. And for M235T; the genotype frequencies in patients with primary hypertension were MM=%19.0 MT=%54.8, and TT=%26.2, which were again not significantly different from that of the controls MM=%26.9 MT=%46.2 and TT=%26.9. In conclusion this study shows that T174M and M235T variants of the AGT gene were not associated with primary hypertension in Turkish subjects from Trakya region.
Survivin is a member of the inhibitor of apoptosis (IAP) family. The function of the survivin protein is to inhibit caspase activation, thereby leading to negative regulation of apoptosis or programmed cell death. This has been shown by the disruption of survivin induction pathways leading to an increased apoptosis and decreased tumour growth. These data suggest that survivin may provide a new target for cancer treatment, which would distinguish transformed cells from normal cells. In the present study, we aimed to investigate exon 1 of the survivin gene by means of methylation-specifi c PCR and evaluate its impact on survivin protein expression following DNA isolation and bisulphite modifi cation in paraffi n-embedded normal and tumour tissues of lung cancer patients with squamous cell carcinoma. We used 41 squamous cancer tissues with methylation in exon 1 of the survivin gene and non-methylation in corresponding tumours. However, the immunohistochemistry staining of these samples demonstrated an increased survivin protein compared to normal tissue. While there is almost no other study to date on this subject matter, we believe that the absence of methylation in exon 1 of the survivin gene may not affect disease prognosis as it has no effect on expression, and possible promoter methylation or transcription factors (Tab. 1, Fig. 4, Ref. 15).
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