Angiopoietin-Like Proteins 4 (ANGPTL4) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation. / Erkinova, Sarafroz A.; Sokolova, Ekaterina A.; Orlov, Kirill Y. et al.
In: Journal of Stroke and Cerebrovascular Diseases, Vol. 27, No. 4, 01.04.2018, p. 908-913.Research output: Contribution to journal › Article › peer-review
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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 -
ID: 9080409