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HFE p.C282Y gene variant is associated with varicose veins in Russian population

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Abstract

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.

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Acknowledgments

This work was supported by Russian Science Fund [Project 14-15-00734 « Searching of genes involved in varicose vein disease pathology »].

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Correspondence to Maxim L. Filipenko.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Ekaterina A. Sokolova and Alexandra S. Shadrina have contributed equally to this work.

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Sokolova, E.A., Shadrina, A.S., Sevost’ianova, K.S. et al. HFE p.C282Y gene variant is associated with varicose veins in Russian population. Clin Exp Med 16, 463–470 (2016). https://doi.org/10.1007/s10238-015-0377-y

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