Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil
| Autor: | Marco Antonio Stefani, Simone Sieben da Mota, Andre Cerutti Franciscatto, Fernanda Sperb Ludwig, Ursula da Silveira Matte |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Apolipoprotein E
medicine.medical_specialty Pathology Population Neurosurgery interleukin 6 Single-nucleotide polymorphism 030204 cardiovascular system & hematology Logistic regression Gastroenterology activine-like kinase 1 03 medical and health sciences single nucleotide polymorphisms 0302 clinical medicine Internal medicine Genetics Medicine Allele Interleukin 6 education brain arteriovenous malformation interleukin 1 beta education.field_of_study endoglin tumor necrosis factor alpha biology business.industry General Engineering ACVRL1 Endoglin biology.protein business 030217 neurology & neurosurgery apolipoprotein e |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | INTRODUCTION The aim of this study was to reproducibly determine if any of the polymorphisms were associated with the susceptibility to brain arteriovenous malformations (BAVM) or the risk of intracranial hemorrhage (ICH) presentation. METHODS We recruited 63 BAVM patients and 96 controls. The polymorphisms selected for evaluation were apolipoprotein E (APOE), tumor necrosis factor alpha (TNF 238G>A - rs361525), interleukin 1 beta (IL1B 511C>T - rs16944 and IL1B -31T>C - rs1143627), activin-like kinase 1 (ACVRL1 IVS3-35A>G - rs2071219), endoglin (ENG 207G>A - rs11545664), and interleukin 6 (IL6 174G>C - rs1800795). RESULTS In the single analysis, we observed statistically significant differences in the allele distributions for IL1B -31T>C (rs1143627) between the BAVM patients and control subjects (P = 0.02). There was a trend toward significance for the association between the IL1B 511C>T (rs16944) allele and BAVM risk (P = 0.07). In further logistic regression analysis, no polymorphism was significantly associated with the risk of BAVM. No polymorphisms were associated with hemorrhage presentation according to both single and multivariable analyses. CONCLUSIONS In our sample from a south Brazil population, we found no association between the risks of BAVM and ICH presentation with any of the selected polymorphisms. |
| Databáze: | OpenAIRE |
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