Study of the association of polymorphic variants rs1333040 and rs7865618 chromosome 9p21 with the development of arteriovenous malformations
https://doi.org/10.1234/XXXX-XXXX-2016-5-61-64
Abstract
The aim of this study was to investigate associations between single nucleotide polymorphisms (SNPs) in rs1333040 gene CDKN2B and rs7865618 gene CDKN2А and risk of BAVM in the residents of the West Siberian region. Method: The study included 191 patients (124 men and 67 women) with brain BAVM`s, confirmed with Magnetic resonance imaging (MRI) and cerebral angiography (CAG) in the clinical centers in Novosibirsk. The control group consisted of 480 residents of Novosibirsk without BAVM. Determination of polymorphic variants of genes was performed by Real Time qPCR using TaqMan-competing probes. Results: We found that the rs7865618 gene CDKN2A is associated with brain arteriovenous malformation (OR = 1,915, CI = [1,158-3,167], р = 0,01). Conclusion: The study showed that the genotype of GG rs7865618 polymorphic locus in CDKN2A is associated with the risk of BAVM in the West Siberians.
About the Authors
S. A. Erkinova
Novosibirsk State University; Institute of Chemical Biology and Fundamental Medicine
Russian Federation
Russian Federation
V. S. Kiselyov
Federal Neurosurgical Center
Russian Federation
Russian Federation
N. V. Strelnikov
Center angioneurology and neurosurgery named after Academician Meshalkin E.N
Russian Federation
Russian Federation
K. Y. Orlov
Center angioneurology and neurosurgery named after Academician Meshalkin E.N
Russian Federation
Russian Federation
A. V. Dubovoy
Federal Neurosurgical Center
Russian Federation
Russian Federation
E. N. Voronina
Novosibirsk State University; Institute of Chemical Biology and Fundamental Medicine; Institute of Chemical Biology and Fundamental Medicine
Russian Federation
Russian Federation
M. L. Filipenko
Novosibirsk State University; Institute of Chemical Biology and Fundamental Medicine; Institute of Chemical Biology and Fundamental Medicine
Russian Federation
Russian Federation
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Review
For citations:
Erkinova S.A., Kiselyov V.S., Strelnikov N.V., Orlov K.Y., Dubovoy A.V., Voronina E.N., Filipenko M.L. Study of the association of polymorphic variants rs1333040 and rs7865618 chromosome 9p21 with the development of arteriovenous malformations. Medical Genetics. 2016;15(5):61-64. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-5-61-64
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