TY - JOUR

T1 - Angiopoietin-Like Proteins 4 (ANGPTL4) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation

AU - Erkinova, Sarafroz A.

AU - Sokolova, Ekaterina A.

AU - Orlov, Kirill Y.

AU - Kiselev, Vitaly S.

AU - Strelnikov, Nikolay V.

AU - Dubovoy, Andrey V.

AU - Voronina, Elena N.

AU - Filipenko, Maxim L.

N1 - Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

PY - 2018/4/1

Y1 - 2018/4/1

N2 - Background: Brain arteriovenous malformations (BAVMs) are formed by hypertrophied arterial vessels (afferents, feeders), a large number of arteriovenous shunts which become tangled to form a body (nidus) of malformation, which then expands draining proximal veins. The aim of this study was a replication of single nucleotide polymorphism (SNP) rs11672433 association with BAVM development with the subsequent meta-analysis of published data. Methods: A total of 252 Russian patients with brain BAVMs and 480 control subjects were included in the present study. Genotyping was performed using real-time polymerase chain reaction with competitive hydrolysis probes. Results: In our case-control study, we found no significant association with brain arteriovenous malformation for the SNP rs11672433 of ANGPTL4 gene (odds ratio .82, 95% confidence interval = .57-1.17 P value = .27) as well as in meta-analysis (odds ratio 1.18, 95% confidence interval = .81-1.73, P value = .39). Conclusions: Our data showed that SNP rs11672433 was not associated with the BAVM Russian population and the following meta-analysis did not detect an association in total. Thus, in spite of the fact that ANGPTL4 (protein) participates in the angiogenesis regulation processes, we consider that SNP rs11672433, a high-frequency locus in the ANGPTL4 gene, does not influence the predisposition to BAVM or its effect is too small to be detected in the present size sample set.

AB - Background: Brain arteriovenous malformations (BAVMs) are formed by hypertrophied arterial vessels (afferents, feeders), a large number of arteriovenous shunts which become tangled to form a body (nidus) of malformation, which then expands draining proximal veins. The aim of this study was a replication of single nucleotide polymorphism (SNP) rs11672433 association with BAVM development with the subsequent meta-analysis of published data. Methods: A total of 252 Russian patients with brain BAVMs and 480 control subjects were included in the present study. Genotyping was performed using real-time polymerase chain reaction with competitive hydrolysis probes. Results: In our case-control study, we found no significant association with brain arteriovenous malformation for the SNP rs11672433 of ANGPTL4 gene (odds ratio .82, 95% confidence interval = .57-1.17 P value = .27) as well as in meta-analysis (odds ratio 1.18, 95% confidence interval = .81-1.73, P value = .39). Conclusions: Our data showed that SNP rs11672433 was not associated with the BAVM Russian population and the following meta-analysis did not detect an association in total. Thus, in spite of the fact that ANGPTL4 (protein) participates in the angiogenesis regulation processes, we consider that SNP rs11672433, a high-frequency locus in the ANGPTL4 gene, does not influence the predisposition to BAVM or its effect is too small to be detected in the present size sample set.

KW - Angiopoietin-like proteins 4 (ANGPTL4)

KW - Arteriovenous malformations

KW - Association

KW - Gene

KW - Single nucleotide polymorphisms

KW - gene

KW - association

KW - angiopoietin-like proteins 4 (ANGPTL4)

KW - single nucleotide polymorphisms

KW - ASSOCIATION

KW - Angiopoietin-like 4 Protein/genetics

KW - Humans

KW - Middle Aged

KW - Male

KW - Case-Control Studies

KW - Russia

KW - Young Adult

KW - Adult

KW - Female

KW - Odds Ratio

KW - Genetic Predisposition to Disease

KW - Genetic Association Studies

KW - Intracranial Arteriovenous Malformations/diagnosis

KW - Gene Frequency

KW - Risk Factors

KW - Chi-Square Distribution

KW - Phenotype

KW - Polymorphism, Single Nucleotide

UR - http://www.scopus.com/inward/record.url?scp=85037059790&partnerID=8YFLogxK

U2 - 10.1016/j.jstrokecerebrovasdis.2017.10.033

DO - 10.1016/j.jstrokecerebrovasdis.2017.10.033

M3 - Article

C2 - 29221972

AN - SCOPUS:85037059790

VL - 27

SP - 908

EP - 913

JO - Journal of Stroke and Cerebrovascular Diseases

JF - Journal of Stroke and Cerebrovascular Diseases

SN - 1052-3057

IS - 4

ER -