Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches
| Autor: | S. Melkorka Maggadottir, Xiao Chang, Akshatha Desai, Yun Li, Jin Li, Hakon Hakonarson, Zhi Wei |
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| Rok vydání: | 2016 |
| Předmět: |
Epigenomics
0301 basic medicine Biophysics Genomics Genome-wide association study Computational biology Disease Biology Biochemistry Epigenesis Genetic 03 medical and health sciences medicine Humans Genetic Predisposition to Disease Epigenetics Copy-number variation Molecular Biology Genetics Common variable immunodeficiency medicine.disease Common Variable Immunodeficiency 030104 developmental biology Primary immunodeficiency Genome-Wide Association Study |
| Zdroj: | Biochimica et Biophysica Acta (BBA) - General Subjects. 1860:2656-2663 |
| ISSN: | 0304-4165 |
| DOI: | 10.1016/j.bbagen.2016.06.014 |
| Popis: | Background Common variable immunodeficiency disorder (CVID) is the most frequently encountered symptomatic primary immunodeficiency, characterized by highly heterogeneous immunological features and clinical presentations. As better targeted therapies are importantly needed for CVID, improved understanding of the genetic and epigenetic basis for the development of CVID presents the most promising venue for improvement. Scope of review Several genomic and epigenomic studies of CVID have recently been carried out on cohorts of sporadic cases of CVID. Using high-throughput array and sequencing technologies, these studies identified several loci associated with the disease. Here, we review the omics approaches used in these studies and resulting discoveries. We also discuss how these findings lead to improved understanding of the molecular basis of CVID and possible future directions to pursue. Major conclusions High-throughput omics approaches have been productive in genetic and epigenetic studies of CVID, leading to the identifications of several significantly associated loci of different variant types, as well as genes and pathways elucidating the shared genetic basis of CVID and autoimmunity. Complex polygenic model of inheritance together with interplay between genetic components and environmental factors may account for the etiology of CVID and various associated comorbidities. General significance The genetic and epigenetic basis of CVID when further translated through functional studies will allow for improved understanding of the CVID etiology and will provide new insights into the development of potential new therapeutic approaches for this devastating condition. This article is part of a Special Issue entitled "System Genetics" Guest Editor: Dr. Yudong Cai and Dr. Tao Huang. |
| Databáze: | OpenAIRE |
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