Sokolova Ekaterina A, Shadrina Alexandra S, Sevost'ianova Kseniya S, Shevela Andrey I, Soldatsky Evgenii Yu, Seliverstov Evgenii I, Demekhova Marina Yu, Shonov Oleg A, Ilyukhin Evgenii A, Smetanina Mariya A, Voronina Elena N, Zolotukhin Igor A, Filipenko Maxim L
Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences, 8 Lavrentiev Avenue, Novosibirsk, 630090, Russia.
Novosibirsk State University, 2 Pirogov Avenue, Novosibirsk, 630090, Russia.
Clin Exp Med. 2016 Aug;16(3):463-70. doi: 10.1007/s10238-015-0377-y. Epub 2015 Sep 28.
Recently, the association of polymorphism rs1800562 (p.C282Y) in the hemochromatosis (HFE) gene with the increased risk of venous ulceration was shown. We hypothesized that HFE gene polymorphism might be involved not only in ulceration process, but also in susceptibility to primary varicose veins. We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754). In our study, p.282Y variant (rs1800562 A allele) was significantly associated with the risk of varicose veins (OR 1.79, 95 % CI = 1.11-2.89, P = 0.02). A borderline significant reverse association of p.63D variant (rs1799945 G allele) with venous leg ulcer development was revealed in Russians (OR 0.25, 95 % CI = 0.06-1.00, P = 0.05), but not in the meta-analysis (P = 0.56). We conclude that the HFE gene polymorphism can affect the risk of developing primary varicose veins.
最近的研究表明，血色素沉着症（HFE）基因中的多态性rs1800562（p.C282Y）与静脉溃疡风险增加有关。我们推测，HFE基因多态性可能不仅参与溃疡形成过程，还与原发性静脉曲张的易感性有关。我们对原发性静脉曲张患者（n = 463）和对照组（n = 754）的HFE p.C282Y（rs1800562）和p.H63D（rs1799945）变体进行了基因分型。在我们的研究中，p.282Y变体（rs1800562 A等位基因）与静脉曲张风险显著相关（OR 1.79，95%CI = 1.11 - 2.89，P = 0.02）。在俄罗斯人群中，p.63D变体（rs1799945 G等位基因）与下肢静脉溃疡发展呈临界显著的反向关联（OR 0.25，95%CI = 0.06 - 1.00，P = 0.05），但在荟萃分析中未发现此关联（P = 0.56）。我们得出结论，HFE基因多态性可影响原发性静脉曲张的发病风险。
