俄罗斯伏尔加-乌拉尔地区特应性皮炎患者中丝聚合蛋白基因突变及拷贝数变异的研究。
The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia.
作者信息
Gimalova Galiya F, Karunas Alexandra S, Fedorova Yuliya Y, Khusnutdinova Elza K
机构信息
Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences, Ufa 450054, Pr.Oktyabrya, 71, Russia.
Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences, Ufa 450054, Pr.Oktyabrya, 71, Russia; Bashkir State University, Ufa 450076, ul. Z.Validi, 32, Russia.
出版信息
Gene. 2016 Oct 10;591(1):85-89. doi: 10.1016/j.gene.2016.06.054. Epub 2016 Jun 28.
Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by age-specific localization, dryness, itch and hypersensitivity to allergens. In our study, we investigated FLG gene mutations and CNVs in AD patients and control subjects of different ethnic origin from Volga-Ural region. AD group included 303 patients (177 Russians, 126 Tatars). Control group consisted of 261 healthy individuals (152 Russians, 109 Tatars). The study revealed 66 FLG mutation carriers and demonstrated an association between c.2282del4 deletion and AD development in Russians and Tatars of Volga-Ural region of Russia. In the analysis of the FLG gene CNVs, the most common was 10-repeat allele in both Russian and Tatar patients and controls. We were unable to find any significant difference in CNV repeats count between AD patients and control individuals.
特应性皮炎（AD）是一种慢性炎症性皮肤病，其特征为具有特定年龄阶段的发病部位、皮肤干燥、瘙痒以及对过敏原过敏。在我们的研究中，我们调查了来自伏尔加 - 乌拉尔地区不同种族的AD患者和对照受试者的FLG基因突变和拷贝数变异（CNV）。AD组包括303名患者（177名俄罗斯人，126名鞑靼人）。对照组由261名健康个体组成（152名俄罗斯人，109名鞑靼人）。该研究发现了66名FLG突变携带者，并证明了俄罗斯伏尔加 - 乌拉尔地区的俄罗斯人和鞑靼人中，c.2282del4缺失与AD发病之间存在关联。在对FLG基因CNV的分析中，俄罗斯和鞑靼患者及对照中最常见的是10重复等位基因。我们未能在AD患者和对照个体之间发现CNV重复计数的任何显著差异。
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