First Department of Dermatovenereology, St. Ann's Faculty Hospital and Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
J Eur Acad Dermatol Venereol. 2023 Mar;37(3):590-597. doi: 10.1111/jdv.18770. Epub 2022 Dec 3.
Chronic venous disease (CVD) is a common disorder of lower extremities.
The study was scheduled to investigate the relationship between polymorphisms in major proinflammatory genes TNF α (-238 A/G; -308 A/G), TNF β (NcoI), IL-1β (+3953 T/C); IL-6 (-174 G/C; -596 G/C) and ADAM17 (3'TACE) and CVD risk. Genotype-phenotype study was calculated to test possible association between examined genotypes and phenotypes of CVD.
Finally, 150 CVD patients and 227 control subjects were enrolled to the study. Genotypes in proinflammatory gene polymorphisms were identified from isolated DNA by PCR method and restriction analysis.
Significant differences in genotype distribution/allelic frequencies in TNF β gene, IL-1 β gene and in ADAM17 gene polymorphisms were found between CVD women and control ones. In the genotype-phenotype study, identified genotypes were associated with arterial hypertension (ADAM17, IL-6-men), ischaemic heart disease (TNF α and β genes), diabetes mellitus (ADAM17-women, TNF β-men), age of CVD onset (TNF α and IL-6), ulceration (ADAM17), duration of ulceration (ADAM17), ulceration recurrence (ADAM17-women), home care necessity (TNF α), varices surgery (TNF α), erysipelas development (ADAM17-men) and tumour development (TNF α).
Studying of these polymorphisms associations can help us better identify patients at higher risk of developing severe CVD.
慢性静脉疾病(CVD)是一种常见的下肢疾病。
本研究旨在探讨主要促炎基因 TNFα(-238A/G;-308A/G)、TNFβ(NcoI)、IL-1β(+3953T/C);IL-6(-174G/C;-596G/C)和 ADAM17(3’TACE)的多态性与 CVD 风险之间的关系。对基因型-表型进行研究,以检验所检查的基因型与 CVD 表型之间的可能关联。
最终纳入 150 例 CVD 患者和 227 例对照进行研究。采用 PCR 法和限制性分析从分离的 DNA 中鉴定促炎基因多态性的基因型。
TNFβ 基因、IL-1β 基因和 ADAM17 基因多态性的基因型分布/等位基因频率在 CVD 女性和对照组之间存在显著差异。在基因型-表型研究中,所鉴定的基因型与动脉高血压(ADAM17、IL-6-男性)、缺血性心脏病(TNFα 和β基因)、糖尿病(ADAM17-女性,TNFβ-男性)、CVD 发病年龄(TNFα 和 IL-6)、溃疡(ADAM17)、溃疡持续时间(ADAM17)、溃疡复发(ADAM17-女性)、家庭护理需求(TNFα)、静脉曲张手术(TNFα)、丹毒发展(ADAM17-男性)和肿瘤发展(TNFα)相关。
研究这些多态性的相关性可以帮助我们更好地识别发生严重 CVD 风险较高的患者。