Shadrina Alexandra S, Smetanina Mariya A, Sokolova Ekaterina A, Shamovskaya Darya V, Sevost'ianova Kseniya S, Shevela Andrey I, Soldatsky Evgenii Y, Seliverstov Evgenii I, Demekhova Marina Y, Shonov Oleg A, Ilyukhin Evgeny A, Voronina Elena N, Pikalov Ilya V, Zolotukhin Igor A, Kirienko Alexander I, Filipenko Maxim L
1 Institute of Chemical Biology and Fundamental Medicine, Russia.
2 Novosibirsk State University, Russia.
Phlebology. 2018 Feb;33(1):27-35. doi: 10.1177/0268355516683611. Epub 2016 Dec 8.
Objective To study the association of polymorphisms rs699947, rs2010963, rs3025039 in the VEGFA gene region and rs1870377, rs2305949, rs2071559 in the VEGFR2 gene region with the risk of primary varicose veins in ethnic Russians. Methods Genotypes were determined by real-time PCR allelic discrimination. The case group consisted of 448 patients with primary varicose veins and the control group comprised 609 individuals without a history of chronic venous disease. Association was studied by logistic regression analysis. Results Allele rs2010963 C was associated with the decreased risk of varicose veins (additive model of inheritance: odds ratio = 0.73, 95% confidence interval = 0.59-0.91, P = 0.004). Conclusions Our results provide evidence that polymorphism rs2010963 located in the 5' untranslated region of the VEGFA gene can influence genetic susceptibility to primary varicose veins in Russians. Otherwise, it can be in linkage disequilibrium with another functional single nucleotide polymorphism that can alter the level of vascular endothelial growth factor A protein.
目的 研究俄罗斯族人群中血管内皮生长因子A(VEGFA)基因区域的rs699947、rs2010963、rs3025039多态性以及血管内皮生长因子受体2(VEGFR2)基因区域的rs1870377、rs2305949、rs2071559多态性与原发性静脉曲张风险的相关性。方法 采用实时荧光定量PCR等位基因分型法确定基因型。病例组由448例原发性静脉曲张患者组成,对照组由609例无慢性静脉疾病病史的个体组成。通过逻辑回归分析研究相关性。结果 等位基因rs2010963 C与静脉曲张风险降低相关(遗传加性模型:比值比=0.73,95%置信区间=0.59-0.91,P=0.004)。结论 我们的结果表明,位于VEGFA基因5'非翻译区的rs2010963多态性可能影响俄罗斯人原发性静脉曲张的遗传易感性。否则,它可能与另一个可改变血管内皮生长因子A蛋白水平的功能性单核苷酸多态性处于连锁不平衡状态。