Abstract
NGS technologies have transformed clinical diagnostics and broadly used from neonatal emergencies to adult conditions where the diagnosis cannot be made based on clinical symptoms. Autoimmune diseases reveal complicate molecular background and traditional methods could not fully capture them. Certainly, NGS technologies meet the needs of modern exploratory research, diagnostic and pharmacotherapy. Therefore, the main purpose of this review was to briefly present the application of NGS technology used in recent years in the understanding of autoimmune diseases paying particular attention to autoimmune connective tissue diseases. The main issues are presented in four parts: (a) panels, whole-genome and -exome sequencing (WGS and WES) in diagnostic, (b) Human leukocyte antigens (HLA) as a diagnostic tool, (c) RNAseq, (d) microRNA and (f) microbiome. Although all these areas of research are extensive, it seems that epigenetic impact on the development of systemic autoimmune diseases will set trends for future studies on this area.
Highlights
High-throughput nucleic acid sequencing methods are a breakthrough in research based on molecular biology
The aim of this review is to present the recent scope of next-generation sequencing (NGS) analysis in the aspect of autoimmune connective tissue diseases
This study revealed that urine cells have the potential to serve as surrogates for kidney biopsies in assessing the molecular activation state of subsets of infiltrating leukocytes [100]
Summary
High-throughput nucleic acid sequencing methods are a breakthrough in research based on molecular biology. James Watson’s DNA, as a part of Human Genome Project, revealed novel genes not previously identified by traditional genomic sequencing This technology confirmed the results of sequencing by traditional method but appeared to be faster and cheaper. The aim of this review is to present the recent scope of NGS analysis in the aspect of autoimmune connective tissue diseases. NGS-based typing of high-resolution HLA gene polymorphisms in Japanese population revealed significant nonadditive effects of HLA-DPB1*05:01 and HLA-DPB1*02:02 alleles on the risk of Graves’ disease; HLA-DQβ1 at rs9273367 in LD with HLA-DQβ1 Ile185 (r2 = 0.81) with type 1 diabetes, RA significantly associated with HLA-DRB1, HLA-DQA1. An asterisk [*] in HLA allele name indicates that the allele was typed using molecular methods
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