Relationship between eNOS gene polymorphism and cerebral infarction of young and middle-aged Chinese Han population

Abstract

Abstract:Purpose: To discuss the relationship between the acute cerebral infarction of differently aged population and the variable number tandem repeat polymorphism of endothelial nitric oxide synthase (eNOS) gene. Methods: The genotypes of 129 acute cerebral infarction patients and 100 healthy control subjects were determined by PCR and polyacrylamide gel electrophoresis (PAGE). Results: In the patient group, the frequency of allelic gene a was higher than that in the control group (13.56 % vs 3 %, p < 0.01), and the frequencies of the patients followed the descending order from young through middle-aged to elderly (42.31 % vs 17.2 % vs 5.8 %). The frequencies of the young, middle-aged and elderly population in the control group differed signifi cantly (5.55 % vs 2.94 % vs 2.63 %), and those of the young and middle-aged population in the two groups also differed statistically signifi cantly. Conclusion:The ab genotype of eNOS 4th intron is correlated with the acute cerebral infarction of young and middle-aged Chinese Han population that may involve allelic gene a as an independent risk factor (Tab. 3, Fig. 3, Ref. 13 Acute cerebral infarction (ACI), as a common and frequently occurring disease, is one of the major diseases that seriously threat the health and life of human beings and recently even young people. Scholars worldwide have proposed gene detection concerning susceptible groups by studying multiple gene polymorphisms to prevent and control the occurrence of cerebral infarction (1, 2). Endothelial nitric oxide synthase 3 (Nos3) gene, which is located in human chromosome 7q36 with the length of about 22 kb, includes 26 exons and 25 introns mainly existing in vascular endothelial cells, and its catalysate eNO can inhibit the adhesion and aggregation of platelets and leukocytes on vascular endothelial surface, and proliferation of vascular smooth muscle cells. Therefore, Nos3 is an important inhibitory factor of atherosclerosis. The variable number tandem repeat sequence (VNTR) polymorphism of 27 bases of intron 4 is closely related to the level of plasma nitric oxide (NO). The correlation of this polymorphism with cardiovascular and cerebrovascular disease has been thoroughly studied, but the conclusions differ significantly between geographies and ethnics (3). This study aims to explore the relationship between eNOS gene polymorphism and young and middle-aged cerebral infarction in Chinese Han population. Materials and methods Subjects129 Han Chinese patients with ACI who received emergency diagnosis in our hospital from January 2009 to April 2011 were selected, of which there were 75 males and 54 females. The patients were divided into three subgroups according to the aged-grading method of the World Health Organization (WHO): young group (14-44 years old; n = 13), middle-aged group (45-65 years old; n = 47) and elderly group (over 65 years old; n = 69). Age and gender were matched in the control group. All selected subjects underwent examinations on blood pressure, blood sugar and cholesterol.Inclus...

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eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia

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