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Genetic variants for endoglina: relationship with morphological characteristics of sporadic and familial intracranial aneurysms with and without rupture

Grant number: 11/14558-8
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): December 01, 2011
Effective date (End): November 30, 2013
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Márcio Luiz Tostes dos Santos
Grantee:José Luiz Domingues Júnior
Host Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil


Hemorrhagic stroke are associated with a ruptured intracranial aneurysm (IA) or other vascular malformations. The bleeding can cause traumatic injury to the tissue and edema around the hemorrhage, increased intracranial pressure, with progression of tissue damage. In this context, we highlight environmental risk factors such as age, female gender, smoking, alcoholism, hypertension, and genetic factors that play an important role in the formation of this type of aneurysm. Thus, we stands out endoglina gene (ENG), which is involved in angiogenesis of blood vessels and alteration of vascular structure caused by inflammation and wound healing. Variants of this gene may modify its expression and activity. This study aims to evaluate the prevalence of polymorphism ENG in subjects with IA familial and their first-degree relatives; analyze the odds ratio for ruptured intracranial aneurysm and its relationship with that polymorphism and to evaluate the relationship between morphological characteristics of IA and this polymorphism. Will be studied 400 individuals, regardless of sex, ethnicity and age, divided into six groups. Group 1 - 40 individuals diagnosed with familial IA, Group 2 to 160 first-degree relatives of G1, Group 3 to 80 individuals without the disease, with negative angiography, Group 4 to 120 first-degree relatives of G5. ENG variants will be analyzed by polymerase chain reaction in conventional agarose gels and specific staining. The statistical analysis will use the Fisher test or Chi-square (x2), with significance level P <0.05.JUSTIFICATIONThe explanation about the influence of genetic variants and environmental factors as risk factors for development of intracranial aneurysms, allow identifying subgroups of patients with increased risk of developing the disease, including first-degree relatives. This could facilitate monitoring and treatment strategies for these people. In this context, the genetic markers for confirmation of IA in different series related to their morphology, may contribute to the prognosis and risk profile of the disease, including the likelihood of rupture of cerebral aneurysm. Moreover, in Brazil, are lacking studies involving genetic alterations associated with IA, making this casuistic pioneering work in Brazil with this disease. (AU)

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