title: HFE p.C282Y gene variant is associated with varicose veins in Russian population.
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.
authors.affiliation: 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.
authors.forename: Ekaterina A
authors.initials: EA
authors.lastname: Sokolova
authors.affiliation: 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.
authors.forename: Alexandra S
authors.initials: AS
authors.lastname: Shadrina
authors.affiliation: Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences, 8 Lavrentiev Avenue, Novosibirsk, 630090, Russia.
authors.forename: Kseniya S
authors.initials: KS
authors.lastname: Sevost'ianova
authors.affiliation: Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences, 8 Lavrentiev Avenue, Novosibirsk, 630090, Russia.
authors.forename: Andrey I
authors.initials: AI
authors.lastname: Shevela
authors.affiliation: Pirogov Russian National Research Medical University, 1 Ostrovitianova Street, Moscow, 117997, Russia.
authors.forename: Evgenii Yu
authors.initials: EY
authors.lastname: Soldatsky
authors.affiliation: Pirogov Russian National Research Medical University, 1 Ostrovitianova Street, Moscow, 117997, Russia.
authors.forename: Evgenii I
authors.initials: EI
authors.lastname: Seliverstov
authors.affiliation: Private Surgery Center «Medalp», 54 Leningradskaya Street, Saint Petersburg, 197758, Russia.
authors.forename: Marina Yu
authors.initials: MY
authors.lastname: Demekhova
authors.affiliation: Private Surgery Center «Medalp», 54 Leningradskaya Street, Saint Petersburg, 197758, Russia.
authors.forename: Oleg A
authors.initials: OA
authors.lastname: Shonov
authors.affiliation: Private Surgery Center «Medalp», 54 Leningradskaya Street, Saint Petersburg, 197758, Russia.
authors.forename: Evgenii A
authors.initials: EA
authors.lastname: Ilyukhin
authors.affiliation: Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences, 8 Lavrentiev Avenue, Novosibirsk, 630090, Russia.
authors.forename: Mariya A
authors.initials: MA
authors.lastname: Smetanina
authors.affiliation: 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.
authors.forename: Elena N
authors.initials: EN
authors.lastname: Voronina
authors.affiliation: Pirogov Russian National Research Medical University, 1 Ostrovitianova Street, Moscow, 117997, Russia.
authors.forename: Igor A
authors.initials: IA
authors.lastname: Zolotukhin
authors.affiliation: Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences, 8 Lavrentiev Avenue, Novosibirsk, 630090, Russia. mlfilipenko@gmail.com.|Novosibirsk State University, 2 Pirogov Avenue, Novosibirsk, 630090, Russia. mlfilipenko@gmail.com.
authors.forename: Maxim L
authors.initials: ML
authors.lastname: Filipenko
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D005260:Female; D005787:Gene Frequency; D005796:Genes; D020022:Genetic Predisposition to Disease; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012426:Russia; D014648:Varicose Veins / Q000235:genetics*; D055815:Young Adult
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein
keywords: Hemochromatosis gene; Primary varicose veins