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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.

ABSTRACTThe gene polymorphisms of the vasodilator endothelial nitric oxide synthase (eNOS) are considered as important candidate genetic risk factors for vascular diseases. The present study aimed to assess the genotypic distribution and the allelic frequency of the four repeats (a allele), and the five repeats (b allele) of 27 bp in intron 4 of eNOS gene (eNOS VNTR 4 a/b) in Turkish ischemic stroke patients compared to controls. The study population included 197 (102 males, 95 females) patients with ischemic stroke which were categorized according to the Trial of ORG 10172 in Acute Stroke Treatment (TOAST) as large vessel disease or small vessel disease patients, and 144 (36 males, 108 females) controls. The eNOS VNTR 4 a/b gene polymorphisms were identified with a polymerase chain reaction. Genotypes were defined as aa; 394 bp fragment, ab; 394 and 421 bp fragments, and bb; 421 bp fragment according to the presence of the a and b alleles. In this stroke-control study, we did not find any significant difference in either the genotypic distribution or allelic frequency of eNOS VNTR 4 a/b gene polymorphism between the ischemic stroke patients and the controls (p>0.05). We also did not find any significant difference in either the genotypic distribution or allelic frequency according to gender (p>0.05). In addition, there was also no significant difference for the genotype distribution and the allelic frequency among the stroke subtypes (p>0.05), or according to gender in stroke subgroups (p>0.05). The results suggested the lack of an association between the VNTR 4 a/b gene polymorphisms of eNOS gene and ischemic stroke or between the VNTR 4 a/b gene polymorphisms of eNOS gene and subtypes of ischemic stroke in Turkish population in the Trakya region.