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湿疹中的罕见变异分析鉴定出 DUSP1、NOTCH4 和 SLC9A4 中的外显子变异。

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

机构信息

Max-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.

Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité University Medical Center, Berlin, Germany.

出版信息

Nat Commun. 2021 Nov 16;12(1):6618. doi: 10.1038/s41467-021-26783-x.

Abstract

Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify rare exonic variants in DUSP1, NOTCH4, and SLC9A4 to be associated with eczema. In DUSP1 and NOTCH4 missense variants are predicted to impact conserved functional domains. In addition, five novel common variants at SATB1-AS1/KCNH8, TRIB1/LINC00861, ZBTB1, TBX21/OSBPL7, and CSF2RB are discovered. While genes prioritized based on rare variants are significantly up-regulated in the skin, common variants point to immune cell function. Over 20% of the single nucleotide variant-based heritability is attributable to rare and low-frequency variants. The identified rare/low-frequency variants located in functional protein domains point to promising targets for novel therapeutic approaches to eczema.

摘要

先前的全基因组关联研究揭示了多个与湿疹相关的常见变异,但罕见变异的作用仍有待阐明。在这里,我们研究了罕见变异在湿疹易感性中的作用。我们对包括 20016 例湿疹病例和 380433 名对照在内的 21 个研究人群进行了荟萃分析。使用大型基于人群的参考面板,以高精度对罕见变异进行了推断。我们发现 DUSP1、NOTCH4 和 SLC9A4 中的罕见外显子变异与湿疹相关。在 DUSP1 和 NOTCH4 中,错义变异被预测会影响保守的功能结构域。此外,在 SATB1-AS1/KCNH8、TRIB1/LINC00861、ZBTB1、TBX21/OSBPL7 和 CSF2RB 处发现了五个新的常见变异。基于罕见变异优先考虑的基因在皮肤中显著上调,而常见变异则指向免疫细胞功能。基于单核苷酸变异的遗传率的 20%以上归因于罕见和低频变异。鉴定出的位于功能蛋白结构域中的罕见/低频变异为湿疹的新型治疗方法提供了有希望的靶标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b509/8595373/7a0a29fc9529/41467_2021_26783_Fig1_HTML.jpg

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