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炎症相关基因多态性与俄罗斯族原发性静脉曲张风险的关系。

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

机构信息

Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia.

Novosibirsk State University, Novosibirsk, Russia.

出版信息

Immunol Res. 2018 Feb;66(1):141-150. doi: 10.1007/s12026-017-8981-4.

DOI:10.1007/s12026-017-8981-4
PMID:29247331
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 due to many tests performed. Our study therefore provides evidence that investigated polymorphisms do not play a major role in susceptibility to PVVs.

摘要

炎症被证实存在于静脉曲张中,但其在静脉壁病变发展中的作用仍不确定。我们旨在研究 13 个炎症相关的单核苷酸多态性(SNP)TNF rs1800629 和 rs3093661、IL1A rs1800587、IL1RN rs4251961、IL6 rs1800795 和 rs1800796、IFNG rs2430561、IL10 rs1800896、TGFB1 rs1800469、HIF1A rs11549465、NFKB1 rs28362491 和 rs4648068 在俄罗斯人群中原发性静脉曲张(PVVs)风险中的影响。我们对 709 例 PVVs 患者和 278 例无慢性静脉疾病病史的个体进行了基因分型,并进行了单 SNP 和单倍型分析。在我们的研究中发现了几个与 P<0.05 相关的关联。变异等位基因 HIF1A rs11549465 T、TNF rs3093661 A 和 NFKB1 rs28362491 ATTG 缺失与 PVV 风险呈反向关联,等位基因 IL6 rs1800795 C 与研究病理的风险增加相关。单倍型分析显示 TNF 单倍型 rs3093661 A-rs1800629 G 和 IL6 rs1800795 C-rs1800796 G 与 PVVs 风险降低和增加相关。然而,由于进行了多次测试,在对多重测试进行校正后,所有观察到的关联均未达到统计学意义,我们的研究因此提供了证据表明,所研究的多态性在 PVVs 的易感性中不起主要作用。

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本文引用的文献

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Eur J Vasc Endovasc Surg. 2017 Dec;54(6):752-758. doi: 10.1016/j.ejvs.2017.08.033. Epub 2017 Oct 12.
2
Functional polymorphism rs1024611 in the MCP1 gene is associated with the risk of varicose veins of lower extremities.功能性多态性 rs1024611 位于 MCP1 基因中,与下肢静脉曲张的风险相关。
J Vasc Surg Venous Lymphat Disord. 2017 Jul;5(4):561-566. doi: 10.1016/j.jvsv.2016.12.008. Epub 2017 Feb 20.
3
Association of gene polymorphism (rs28362491) with levels of inflammatory biomarkers and susceptibility to diabetic nephropathy in Asian Indians.
亚洲印度人群中基因多态性(rs28362491)与炎症生物标志物水平及糖尿病肾病易感性的关联
World J Diabetes. 2017 Feb 15;8(2):66-73. doi: 10.4239/wjd.v8.i2.66.
4
Interleukin-6 -572C/G polymorphism is associated with serum interleukin-6 levels and risk of idiopathic pulmonary arterial hypertension.白细胞介素-6 -572C/G多态性与血清白细胞介素-6水平及特发性肺动脉高压风险相关。
J Am Soc Hypertens. 2017 Mar;11(3):171-177. doi: 10.1016/j.jash.2017.01.011. Epub 2017 Feb 3.
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Are Inflammatory Biomarkers Increased in Varicose Vein Blood?静脉曲张血液中的炎症生物标志物会增加吗?
Clin Appl Thromb Hemost. 2016 Oct;22(7):656-64. doi: 10.1177/1076029616645330. Epub 2016 Apr 21.
6
Extracellular matrix remodelling in response to venous hypertension: proteomics of human varicose veins.响应静脉高压的细胞外基质重塑:人类静脉曲张的蛋白质组学
Cardiovasc Res. 2016 Jun 1;110(3):419-30. doi: 10.1093/cvr/cvw075. Epub 2016 Apr 11.
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