Polymorphisms in inflammation-related genes and the risk of primary varicose veins in ethnic Russians

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Polymorphisms in inflammation-related genes and the risk of primary varicose veins in ethnic Russians. / Shadrina, Alexandra; Voronina, Elena ; Smetanina, Mariya et al.

In: Immunologic Research, Vol. 66, No. 1, 01.02.2018, p. 141-150.

Research output: Contribution to journal › Article › peer-review

BibTeX

@article{0b243cbb4d7b40cc91932493d6d1ea9c,

title = "Polymorphisms in inflammation-related genes and the risk of primary varicose veins in ethnic Russians",

abstract = "Inflammation was shown to be activated in varicose veins, although its role in the development of vein wall transformation remains inconclusive. We aimed to investigate the influence of 13 inflammation-related single nucleotide polymorphisms (SNPs) TNF rs1800629 and rs3093661, IL1A rs1800587, IL1RN rs4251961, IL6 rs1800795 and rs1800796, IFNG rs2430561, IL10 rs1800896, TGFB1 rs1800469, HIF1A rs11549465, NFKB1 rs28362491, and rs4648068 on the risk of primary varicose veins (PVVs) in ethnic Russians. We genotyped 709 patients with PVVs and 278 individuals without a history of chronic venous disease and performed a single SNP and a haplotype analysis. Several associations with P < 0.05 were revealed in our study. Variant allele HIF1A rs11549465 T, TNF rs3093661 A, and NFKB1 rs28362491 ATTG deletion showed the reverse association with PVV risk, and allele IL6 rs1800795 C was associated with the increased risk of the studied pathology. Haplotype analysis revealed associations of TNF haplotypes rs3093661 A-rs1800629 G and IL6 rs1800795 C-rs1800796 G with the decreased and the increased risk of PVVs, correspondingly. However, all the observed associations failed to reach statistical significance after the correction for multiple testing, which was set at a level of 10−3 due to many tests performed. Our study therefore provides evidence that investigated polymorphisms do not play a major role in susceptibility to PVVs.",

keywords = "Association, Cytokine, Inflammation, Russians, Single nucleotide polymorphism, Varicose veins, TRANSCRIPTION, HYPOXIA, IDENTIFICATION, PATHOGENESIS, FACTOR-ALPHA PROMOTER, DISEASE, VASCULAR WALL, HYPERTENSION, ASSOCIATION, BLOOD, NF-kappa B p50 Subunit/genetics, Humans, Hypoxia-Inducible Factor 1, alpha Subunit/genetics, Risk, Russia, Interferon-gamma/genetics, Inflammation/genetics, Interleukin-10/genetics, Genetic Predisposition to Disease, Interleukin-1alpha/genetics, Genetic Association Studies, Varicose Veins/genetics, Genotype, Tumor Necrosis Factor-alpha/genetics, Transforming Growth Factor beta1/genetics, Alleles, Interleukin 1 Receptor Antagonist Protein/genetics, Polymorphism, Single Nucleotide, Interleukin-6/genetics, Observer Variation",

author = "Alexandra Shadrina and Elena Voronina and Mariya Smetanina and Yakov Tsepilov and Kseniya Sevost{\textquoteright}ianova and Andrey Shevela and Evgenii Seliverstov and Elena Zakharova and Evgeny Ilyukhin and Alexander Kirienko and Igor Zolotukhin and Maxim Filipenko",

note = "Publisher Copyright: {\textcopyright} 2017, Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2018",

month = feb,

day = "1",

doi = "10.1007/s12026-017-8981-4",

language = "English",

volume = "66",

pages = "141--150",

journal = "Immunologic Research",

issn = "0257-277X",

publisher = "Springer Nature",

number = "1",

}

RIS

TY - JOUR

T1 - Polymorphisms in inflammation-related genes and the risk of primary varicose veins in ethnic Russians

AU - Shadrina, Alexandra

AU - Voronina, Elena

AU - Smetanina, Mariya

AU - Tsepilov, Yakov

AU - Sevost’ianova, Kseniya

AU - Shevela, Andrey

AU - Seliverstov, Evgenii

AU - Zakharova, Elena

AU - Ilyukhin, Evgeny

AU - Kirienko, Alexander

AU - Zolotukhin, Igor

AU - Filipenko, Maxim

PY - 2018/2/1

Y1 - 2018/2/1

N2 - Inflammation was shown to be activated in varicose veins, although its role in the development of vein wall transformation remains inconclusive. We aimed to investigate the influence of 13 inflammation-related single nucleotide polymorphisms (SNPs) TNF rs1800629 and rs3093661, IL1A rs1800587, IL1RN rs4251961, IL6 rs1800795 and rs1800796, IFNG rs2430561, IL10 rs1800896, TGFB1 rs1800469, HIF1A rs11549465, NFKB1 rs28362491, and rs4648068 on the risk of primary varicose veins (PVVs) in ethnic Russians. We genotyped 709 patients with PVVs and 278 individuals without a history of chronic venous disease and performed a single SNP and a haplotype analysis. Several associations with P < 0.05 were revealed in our study. Variant allele HIF1A rs11549465 T, TNF rs3093661 A, and NFKB1 rs28362491 ATTG deletion showed the reverse association with PVV risk, and allele IL6 rs1800795 C was associated with the increased risk of the studied pathology. Haplotype analysis revealed associations of TNF haplotypes rs3093661 A-rs1800629 G and IL6 rs1800795 C-rs1800796 G with the decreased and the increased risk of PVVs, correspondingly. However, all the observed associations failed to reach statistical significance after the correction for multiple testing, which was set at a level of 10−3 due to many tests performed. Our study therefore provides evidence that investigated polymorphisms do not play a major role in susceptibility to PVVs.

AB - Inflammation was shown to be activated in varicose veins, although its role in the development of vein wall transformation remains inconclusive. We aimed to investigate the influence of 13 inflammation-related single nucleotide polymorphisms (SNPs) TNF rs1800629 and rs3093661, IL1A rs1800587, IL1RN rs4251961, IL6 rs1800795 and rs1800796, IFNG rs2430561, IL10 rs1800896, TGFB1 rs1800469, HIF1A rs11549465, NFKB1 rs28362491, and rs4648068 on the risk of primary varicose veins (PVVs) in ethnic Russians. We genotyped 709 patients with PVVs and 278 individuals without a history of chronic venous disease and performed a single SNP and a haplotype analysis. Several associations with P < 0.05 were revealed in our study. Variant allele HIF1A rs11549465 T, TNF rs3093661 A, and NFKB1 rs28362491 ATTG deletion showed the reverse association with PVV risk, and allele IL6 rs1800795 C was associated with the increased risk of the studied pathology. Haplotype analysis revealed associations of TNF haplotypes rs3093661 A-rs1800629 G and IL6 rs1800795 C-rs1800796 G with the decreased and the increased risk of PVVs, correspondingly. However, all the observed associations failed to reach statistical significance after the correction for multiple testing, which was set at a level of 10−3 due to many tests performed. Our study therefore provides evidence that investigated polymorphisms do not play a major role in susceptibility to PVVs.

KW - Association

KW - Cytokine

KW - Inflammation

KW - Russians

KW - Single nucleotide polymorphism

KW - Varicose veins

KW - TRANSCRIPTION

KW - HYPOXIA

KW - IDENTIFICATION

KW - PATHOGENESIS

KW - FACTOR-ALPHA PROMOTER

KW - DISEASE

KW - VASCULAR WALL

KW - HYPERTENSION

KW - ASSOCIATION

KW - BLOOD

KW - NF-kappa B p50 Subunit/genetics

KW - Humans

KW - Hypoxia-Inducible Factor 1, alpha Subunit/genetics

KW - Risk

KW - Russia

KW - Interferon-gamma/genetics

KW - Inflammation/genetics

KW - Interleukin-10/genetics

KW - Genetic Predisposition to Disease

KW - Interleukin-1alpha/genetics

KW - Genetic Association Studies

KW - Varicose Veins/genetics

KW - Genotype

KW - Tumor Necrosis Factor-alpha/genetics

KW - Transforming Growth Factor beta1/genetics

KW - Alleles

KW - Interleukin 1 Receptor Antagonist Protein/genetics

KW - Polymorphism, Single Nucleotide

KW - Interleukin-6/genetics

KW - Observer Variation

UR - http://www.scopus.com/inward/record.url?scp=85038100529&partnerID=8YFLogxK

U2 - 10.1007/s12026-017-8981-4

DO - 10.1007/s12026-017-8981-4

M3 - Article

C2 - 29247331

AN - SCOPUS:85038100529

VL - 66

SP - 141

EP - 150

JO - Immunologic Research

JF - Immunologic Research

SN - 0257-277X

IS - 1

ER -

ID: 9133080