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基因型与儿童特应性皮炎不同表型的相关性。

Genotype Associations with the Different Phenotypes of Atopic Dermatitis in Children.

机构信息

SI "Dnipropetrovsk Medical Academy of the HM of Ukraine", Department of Pediatrics 1 and Medical Genetics, Ukraine.

Bogomoletz Institute of Physiology, NAS of Ukraine, Department of General and Molecular Pathophysiology, Ukraine.

出版信息

Acta Medica (Hradec Kralove). 2021;64(2):96-100. doi: 10.14712/18059694.2021.17.

Abstract

This study deals with detecting the associations of atopic dermatitis' (AD) phenotypes in children: alone or combined with seasonal allergic rhino-conjunctivitis (SARC) and/or perennial allergic rhinitis (PAR), and/or with bronchial asthma (BA) with single nucleotide polymorphisms (SNP) of filaggrin (FLG), thymic stromal lymphopoietin (TSLP) and orsomucoid-like-1 protein 3 (ORMDL3) genes. Male and female pediatric patients aged from 3 to 18 years old were recruited into the main (AD in different combinations with SARC, PAR, BA) and control groups (disorders of digestives system, neither clinical nor laboratory signs of atopy). Patients were genotyped for SNP of rs_7927894 FLG, rs_11466749 TSLP, rs_7216389 ORMDL3 variants. Statistically significant associations of the increased risk were detected of AD combined with SARC and/or PAR and AD combined with BA (possibly, SARC and/or PAR) with C/T rs_7927894 FLG and T/T rs_7216389 ORMDL3 genotypes. Genotype C/C rs_7927894 FLG significantly decreases the risk of AD combined with SARC and/or PAR by 2.56 fold. Several genotypes' associations had a trend to significance: C/C rs_7216389 ORMDL3 decreases and C/T rs_7216389 ORMDL3 increases the risk for developing AD alone phenotype; A/G rs_11466749 TSLP decreases the risk of AD combined with BA (possibly, SARC and/or PAR) phenotype development.

摘要

本研究旨在探讨特应性皮炎(AD)表型在儿童中的相关性:单独或与季节性过敏性鼻结膜炎(SARC)和/或常年性过敏性鼻炎(PAR)以及支气管哮喘(BA)联合,与丝聚蛋白(FLG)、胸腺基质淋巴细胞生成素(TSLP)和 ORMDL3 蛋白基因的单核苷酸多态性(SNP)相关。招募了年龄在 3 至 18 岁的男性和女性儿科患者进入主要组(AD 与 SARC、PAR、BA 的不同组合)和对照组(消化系统疾病,无过敏的临床或实验室迹象)。对 rs_7927894FLG、rs_11466749TSLP 和 rs_7216389ORMDL3 变体的 SNP 进行了基因分型。检测到 AD 与 SARC 和/或 PAR 以及 AD 与 BA(可能与 SARC 和/或 PAR)联合的风险增加与 C/T rs_7927894FLG 和 T/T rs_7216389ORMDL3 基因型相关。FLG 的 rs_7927894C/C 基因型显著降低了 AD 与 SARC 和/或 PAR 联合的风险,降低了 2.56 倍。几种基因型的相关性具有显著趋势:rs_7216389ORMDL3 的 C/C 基因型降低,而 rs_7216389ORMDL3 的 C/T 基因型增加了 AD 单一表型的发病风险;rs_11466749TSLP 的 A/G 基因型降低了 AD 与 BA(可能与 SARC 和/或 PAR)联合表型发展的风险。

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