Genetic characteristics of common variable immunodeficiency patients with autoimmunity

常见可变免疫缺陷 自身免疫 遗传学 原发性免疫缺陷 生物 小桶 单核苷酸多态性 全基因组关联研究 候选基因 基因 免疫学 免疫系统 基因型 抗体 基因表达 转录组
作者
Zhihui Liu,Chenyang Lu,Pingying Qing,Rui-Juan Cheng,Yujie Li,Xue Liang Guo,Ye Chen,Zhiye Ying,Haopeng Yu,Yi Liu
出处
期刊:Frontiers in Genetics [Frontiers Media]
卷期号:14
标识
DOI:10.3389/fgene.2023.1209988
摘要

Background: The pathogenesis of common variable immunodeficiency disorder (CVID) is complex, especially when combined with autoimmunity. Genetic factors may be potential explanations for this complex situation, and whole genome sequencing (WGS) provide the basis for this potential. Methods: Genetic information of patients with CVID with autoimmunity, together with their first-degree relatives, was collected through WGS. The association between genetic factors and clinical phenotypes was studied using genetic analysis strategies such as sporadic and pedigree. Results: We collected 42 blood samples for WGS (16 CVID patients and 26 first-degree relatives of healthy controls). Through pedigree, sporadic screening strategies and low-frequency deleterious screening of rare diseases, we obtained 9,148 mutation sites, including 8,171 single-nucleotide variants (SNVs) and 977 Insertion-deletions (InDels). Finally, we obtained a total of 28 candidate genes (32 loci), of which the most common mutant was LRBA. The most common autoimmunity in the 16 patients was systematic lupus erythematosis. Through KEGG pathway enrichment, we identified the top ten signaling pathways, including "primary immunodeficiency", "JAK-STAT signaling pathway", and "T-cell receptor signaling pathway". We used PyMOL to predict and analyse the three-dimensional protein structures of the NFKB1, RAG1, TIRAP, NCF2, and MYB genes. In addition, we constructed a PPI network by combining candidate mutants with genes associated with CVID in the OMIM database via the STRING database. Conclusion: The genetic background of CVID includes not only monogenic origins but also oligogenic effects. Our study showed that immunodeficiency and autoimmunity may overlap in genetic backgrounds. Clinical Trial Registration: identifier ChiCTR2100044035.
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