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FOXP3 和 EBI3 基因多态性与中国人群变应性鼻炎发病风险的关联。

Association between polymorphisms in FOXP3 and EBI3 genes and the risk for development of allergic rhinitis in Chinese subjects.

机构信息

Department of Otolaryngology, Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, PR China.

出版信息

Hum Immunol. 2012 Sep;73(9):939-45. doi: 10.1016/j.humimm.2012.07.319. Epub 2012 Jul 23.

Abstract

OBJECTIVE

To investigate whether polymorphisms in forkhead box protein 3 (FOXP3) and EBV-induced gene 3 (EBI3) genes are associated with allergic rhinitis (AR) in Chinese patients.

METHODS

A population-based case-control association study design was used to assess the risk of AR conferred by single nucleotide polymorphisms (SNPs) in FOXP3 and EBI3 gene regions. DNA was extracted from 378 patients with AR and 330 healthy controls and analyzed for selected and tagged SNPs. Overall, 9 SNPs were selected and genotyped.

RESULTS

In the single-locus analyses of AR risk, the allele frequencies of rs428253 in EBI3 gene were significantly different between the AR patients and control subjects (P=1.00E-04); even after 10,000 permutations (P<0.05). Logistic regression analyses, adjusted for age and gender, further showed a significant association between EBI3 rs428253 and protective effects against AR (P=0.015, OR=0.624 for CG/CC). The diplotype rs3761548-rs4824747 in FOXP3 gene with "AG" was associated with risk of AR (P=0.031, OR=1.755).

CONCLUSIONS

The findings of this study support the potential role of regulatory T cells and genetic variations in the regions around FOXP3 and EBI3 genes in modifying the risk for AR development in Chinese patients.

摘要

目的

研究叉头框蛋白 3(FOXP3)和 EBV 诱导基因 3(EBI3)基因的多态性是否与中国患者的变应性鼻炎(AR)有关。

方法

采用基于人群的病例对照关联研究设计来评估 FOXP3 和 EBI3 基因区域中单个核苷酸多态性(SNP)对 AR 的风险。从 378 例 AR 患者和 330 例健康对照中提取 DNA,分析选定和标记的 SNP。总体上,选择并对 9 个 SNP 进行了基因分型。

结果

在 AR 风险的单基因座分析中,EBI3 基因中的 rs428253 等位基因频率在 AR 患者和对照组之间存在显著差异(P=1.00E-04);即使经过 10,000 次随机排列(P<0.05)。调整年龄和性别后,逻辑回归分析进一步显示 EBI3 rs428253 与对 AR 的保护作用之间存在显著关联(P=0.015,OR=0.624,CG/CC)。FOXP3 基因中的 rs3761548-rs4824747 双态与 AR 风险相关(P=0.031,OR=1.755)。

结论

本研究的结果支持调节性 T 细胞和 FOXP3 和 EBI3 基因周围区域遗传变异在修饰中国患者 AR 发展风险中的潜在作用。

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