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白细胞介素-22受体α-1基因多态性与严重慢性鼻-鼻窦炎相关。

Polymorphisms in the interleukin-22 receptor alpha-1 gene are associated with severe chronic rhinosinusitis.

作者信息

Endam Leandra Mfuna, Bossé Yohan, Filali-Mouhim Abdelali, Cormier Chantale, Boisvert Pierre, Boulet Louis-Philippe, Hudson Thomas J, Desrosiers Martin

机构信息

Department of Otolaryngology, Hôtel-Dieu Hospital, Montreal University, Montreal, PQ, Canada.

出版信息

Otolaryngol Head Neck Surg. 2009 May;140(5):741-7. doi: 10.1016/j.otohns.2008.12.058. Epub 2009 Feb 28.

Abstract

RATIONALE

Stimulation of interleukin-22 receptor alpha-1 (IL22RA1) was reported to increase the innate immune responses in inflammatory diseases. Moreover, a reduced level of IL22RA1 was found in patients with recalcitrant CRS with nasal polyps.

OBJECTIVE

To explore association between single nucleotide polymorphisms (SNPs) in IL22RA1 and severe CRS.

METHODS

We extracted DNA from 206 cases with severe CRS and 196 postal code-matched controls. Twenty-three SNPs in the IL22RA1 gene were selected from the pooling-based genome-wide association study and from the CEU HapMap dataset and genotyped. PLINK software was used to determine association.

RESULTS

After Bonferroni correction, three SNPs (rs4292900 P(nom) = 0.0006, OR = 1.757; rs4648936 P(nom) = 0.0011, OR = 1.716; rs16829225 P(nom) = 0.0014, OR = 1.977) show significant differences in allelic frequencies between cases and controls.

CONCLUSION

Polymorphisms in IL22RA1 are associated with severe CRS. Replication and functional studies are involved to better understand the mechanism by which these polymorphisms contribute to the pathogenesis of CRS.

摘要

理论依据

据报道,白细胞介素-22受体α-1(IL22RA1)的刺激可增强炎症性疾病中的固有免疫反应。此外,在患有顽固性鼻息肉慢性鼻-鼻窦炎(CRS)的患者中发现IL22RA1水平降低。

目的

探讨IL22RA1单核苷酸多态性(SNP)与重度CRS之间的关联。

方法

我们从206例重度CRS患者和196例邮政编码匹配的对照中提取DNA。从基于池的全基因组关联研究和CEU HapMap数据集中选择IL22RA1基因中的23个SNP并进行基因分型。使用PLINK软件确定关联性。

结果

经过Bonferroni校正后,三个SNP(rs4292900,P(名义)=0.0006,OR=1.757;rs4648936,P(名义)=0.0011,OR=1.716;rs16829225,P(名义)=0.0014,OR=1.977)在病例组和对照组之间的等位基因频率上显示出显著差异。

结论

IL22RA1中的多态性与重度CRS相关。需要进行重复研究和功能研究,以更好地理解这些多态性导致CRS发病机制的方式。

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