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BACH2 基因的遗传多态性是调节 Th2 免疫反应的关键基因,增加了变应性鼻炎的风险。

Genetic polymorphisms of BACH2, a key gene regulating Th2 immune response, increasing risk of allergic rhinitis.

机构信息

Department of Respiratory and Critical Care Medicine, Shenmu Hospital, the Affifiliated Shenmu Hospital of Northwest University, Shenmu, China.

Neurological Department, Yulin No.2 Hospital, Yulin, China.

出版信息

Gene. 2024 Oct 30;926:148624. doi: 10.1016/j.gene.2024.148624. Epub 2024 May 31.

Abstract

BACKGROUND

Allergic rhinitis (AR) is an allergic disease characterized by the dominant differentiation of T helper cell 2 (Th2). BACH2 plays a key role in regulating Th2 immune response. This study aimed to explore the association between BACH2 single nucleotide polymorphism (SNPs) and susceptibility to AR.

METHODS

Han population from northern Shaanxi, China was chosen as subjects. After the DNA extraction from the peripheral blood of subjects, genotyping was completed through the Agena MassARRAY platform. Logistic regression analysis was used to assess the association. Multivariate dimensionality reduction (MDR) was used to evaluate the effect of the interaction between 'SNP-SNP' on susceptibility to AR. Using false-positive report probability (FPRP) analysis to test whether the significant results obtained in this study were noteworthy.

RESULTS

BACH2-rs905670 and -rs2134814 were significantly associated with increased risk of AR. The mutant allele 'A' of rs905670 (OR = 1.36, p = 0.018) and mutant allele 'G' of rs2134814 (OR = 1.34, p = 0.027) were risk genetic factors for AR. The above genetic association was further observed in the stratified analysis: BACH2-rs905670 and-rs2134814 were significantly associated with an increased risk of AR in females, aging older than 43 years, and participants working and living in the loess hills (OR > 1, p < 0.05).

CONCLUSION

BACH2-rs905670 and -rs2134814 are significantly associated with increasing AR risk.

摘要

背景

变应性鼻炎(AR)是一种以 T 辅助细胞 2(Th2)优势分化为特征的过敏性疾病。BACH2 在调节 Th2 免疫反应中起关键作用。本研究旨在探讨 BACH2 单核苷酸多态性(SNP)与 AR 易感性的关系。

方法

选择中国陕北地区的汉族人群作为研究对象。从研究对象外周血中提取 DNA 后,通过 Agena MassARRAY 平台进行基因分型。采用 logistic 回归分析评估关联。多维降维分析(MDR)用于评估“SNP-SNP”相互作用对 AR 易感性的影响。采用假阳性报告概率(FPRP)分析来检验本研究中获得的显著结果是否有意义。

结果

BACH2-rs905670 和 -rs2134814 与 AR 风险增加显著相关。rs905670 的突变等位基因“A”(OR=1.36,p=0.018)和 rs2134814 的突变等位基因“G”(OR=1.34,p=0.027)是 AR 的风险遗传因素。在分层分析中进一步观察到上述遗传关联:BACH2-rs905670 和-rs2134814 与女性、年龄大于 43 岁以及在黄土丘陵地区工作和生活的人群中 AR 风险增加显著相关(OR>1,p<0.05)。

结论

BACH2-rs905670 和 -rs2134814 与 AR 风险增加显著相关。

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