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根据变异情况分析特应性皮炎患儿的临床特征。

Clinical features of children with atopic dermatitis according to variants.

机构信息

Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Uro-Oncology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Allergol Immunopathol (Madr). 2021 Jul 1;49(4):162-166. doi: 10.15586/aei.v49i4.209. eCollection 2021.

Abstract

BACKGROUND

Filament aggregating protein (Filaggrin) is a skeletal cell component that provides a protective function for the epidermis. Mutations of the filaggrin gene () cause a loss of filaggrin protein. These mutations are seen in 50% of atopic dermatitis (AD). The aim of the study was to investigate the polymorphisms and mutations of the in Iranian children with AD.

MATERIALS AND METHODS

This project was a case-controlled study with 25 children diagnosed with AD as the case group and 25 healthy children as the control group. Demographic data, clinical manifestations, and filaggrin single nucleotide polymorphisms (SNPs) and mutations were recorded. Blood samples were collected for the immunoglobulin E (IgE) assay and complete blood count tests.

RESULTS

We found a significant association between the presence of polymorphism (rs66831674) and patients' age, and polymorphism (rs41267154) and early onset of AD. We found no significant differences between the polymorphisms with respect to the severity of AD, ethnicity, concurrent allergic diseases, eosinophilia, and IgE serum levels.

CONCLUSION

Interestingly, variants (rs66831674 and rs41267154) were associated with age and early onset of AD. However, additional studies are required to confirm these results on a large scale of Iranian population. Moreover, establishing a cohort prospective study is suggested to assess the progression of other atopic disorders based on polymorphisms.

摘要

背景

丝聚合蛋白(Filaggrin)是一种细胞骨架成分,为表皮提供保护功能。丝聚合蛋白基因的突变导致丝聚合蛋白的缺失。这些突变在 50%的特应性皮炎(AD)中可见。本研究旨在研究 Filaggrin 基因在伊朗 AD 患儿中的多态性和突变。

材料和方法

这是一项病例对照研究,25 名被诊断为 AD 的儿童为病例组,25 名健康儿童为对照组。记录了人口统计学数据、临床表现以及丝聚合蛋白单核苷酸多态性(SNP)和突变。采集血样进行免疫球蛋白 E(IgE)检测和全血细胞计数。

结果

我们发现,多态性(rs66831674)的存在与患者年龄有关,多态性(rs41267154)与 AD 的早期发病有关。我们发现,AD 的严重程度、种族、同时发生的过敏性疾病、嗜酸性粒细胞增多症和 IgE 血清水平与 多态性之间无显著差异。

结论

有趣的是,变体(rs66831674 和 rs41267154)与年龄和 AD 的早期发病有关。然而,需要在更大的伊朗人群中进行更多的研究来证实这些结果。此外,建议进行队列前瞻性研究,以根据 多态性评估其他特应性疾病的进展。

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