Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.1
3.5
Journals
Genes
Special Issues
Genetics of Autoimmune Diseases
share announcement

Genetics of Autoimmune Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (25 October 2023) | Viewed by 9525

Special Issue Editors

Prof. Dr. Katsushi Tokunaga

E-Mail Website
Guest Editor
Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo 162-8655, Japan
Interests: genome medicine; multifactorial disease; human leucocyte antigen; infectious disease; autoimmune disease; whole- genome sequencing, structural variant
Dr. Yuki Hitomi

E-Mail Website
Guest Editor
Department of Human Genetics, National Center for Global Health and Medicine, Tokyo 162-8655, Japan
Interests: human genetics; immunogenetics; pharmacogenetics; functional genomics; autoimmune disease; complex disease; monogenic disease, post-GWAS

Special Issue Information

Dear Colleagues,

Autoimmune diseases occur when the immune system is unable to distinguish between autoantigens and non-autoantigens due to the disruption of immune tolerance. Autoantibodies attack normal cells and tissues.

Multiple genetic and environmental factors are involved in the development of autoimmune diseases. The identification of genetic factors may help to elucidate the pathogenesis of autoimmune diseases, develop therapies, and predict the onset and severity. Genome-wide association studies (GWAS) are especially effective in comprehensively identifying genetic factors.

The main purpose of this Special Issue is to provide up-to-date information on the most important topics related to the genetics of various systemic and organ-specific autoimmune diseases. In addition, to deepen the reader's understanding of genetic research on autoimmune diseases, this Special Issue includes post-GWAS studies that combine the results obtained from multi-omics analyses and research targeting the human leukocyte antigen gene, which is the most important gene in autoimmune disease.

To this end, we wish to present a collection of original research and systematic review articles.

Prof. Dr. Katsushi Tokunaga
Dr. Yuki Hitomi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • autoimmune disease
  • genetic study
  • polymorphism
  • mutation
  • human leukocyte antigen (HLA)
  • genome-wide association study (GWAS)
  • post-GWAS study
  • complex diseases
  • monogenic diseases

Published Papers (6 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review, Other

10 pages, 1013 KiB  
Article
Association of the BDNF rs6265 Polymorphism with Cognitive Impairment in Multiple Sclerosis: A Case–Control Study in Mexican Patients
by Adriana Aguayo-Arelis, Brenda Viridiana Rabago-Barajas, Ana Miriam Saldaña-Cruz and Miguel Ángel Macías-Islas
Genes 2023, 14(12), 2130; https://doi.org/10.3390/genes14122130 - 26 Nov 2023
Viewed by 708
Abstract
Cognition is a set of brain processes that allow the individual to interact with their environment. Multiple sclerosis (MS) is a chronic inflammatory disease that affects the cerebral white matter of the brain cortex and spinal cord, leading to cognitive impairment (CI) in [...] Read more.
Cognition is a set of brain processes that allow the individual to interact with their environment. Multiple sclerosis (MS) is a chronic inflammatory disease that affects the cerebral white matter of the brain cortex and spinal cord, leading to cognitive impairment (CI) in 40–60% of the patients. Many studies have determined that CI is linked to genetic risk factors. We aimed to evaluate the association between BDNF gene rs6265 polymorphism and cognitive impairment in Mexican patients with MS by performing a case–control study. Mestizo-Mexican patients diagnosed with MS based on McDonald’s criteria were enrolled. Cases were MS patients with CI (n = 31) while controls were MS patients without CI (n = 31). To measure cognitive functioning in MS patients, a neuropsychological screening battery for MS (NSB-MS) was used. Genotyping of the rs6265 gene variant was performed using quantitative real-time PCR (qPCR) with TaqMan probes. The results showed no statistically significant differences in sociodemographic and disease variables between case and control groups. qPCR analysis showed that there were 68% Val/Val wild-type homozygotes, 29% Val/Met polymorphic heterozygotes, and 3% Met/Met polymorphic homozygotes. The presence of BDNF gene rs6265 polymorphism showed an increased probability (3.6 times) of global cognitive impairment. Full article
(This article belongs to the Special Issue Genetics of Autoimmune Diseases)
►▼ Show Figures

Figure 1

14 pages, 1682 KiB  
Article
Association between HLA Class II Alleles/Haplotypes and Genomic Ancestry in Brazilian Patients with Type 1 Diabetes: A Nationwide Exploratory Study
by Marília Brito Gomes, Vandilson Rodrigues, Deborah Conte Santos, Paulo Ricardo Villas Bôas, Dayse A. Silva, Rossana Santiago de Sousa Azulay, Sergio Atala Dib, Elizabeth João Pavin, Virgínia Oliveira Fernandes, Renan Magalhães Montenegro Junior, João Soares Felicio, Rosangela Réa, Carlos Antonio Negrato and Luís Cristóvão Porto
Genes 2023, 14(5), 991; https://doi.org/10.3390/genes14050991 - 27 Apr 2023
Cited by 2 | Viewed by 2121
Abstract
We aimed to identify HLA-DRB1, -DQA1, and -DQB1 alleles/haplotypes associated with European, African, or Native American genomic ancestry (GA) in admixed Brazilian patients with type 1 diabetes (T1D). This exploratory nationwide study enrolled 1599 participants. GA percentage was inferred using a [...] Read more.
We aimed to identify HLA-DRB1, -DQA1, and -DQB1 alleles/haplotypes associated with European, African, or Native American genomic ancestry (GA) in admixed Brazilian patients with type 1 diabetes (T1D). This exploratory nationwide study enrolled 1599 participants. GA percentage was inferred using a panel of 46 ancestry informative marker-insertion/deletion. Receiver operating characteristic curve analysis (ROC) was applied to identify HLA class II alleles related to European, African, or Native American GA, and showed significant (p < 0.05) accuracy for identifying HLA risk alleles related to European GA: for DRB1*03:01, the area under the curve was (AUC) 0.533; for DRB1*04:01 AUC = 0.558, for DRB1*04:02 AUC = 0.545. A better accuracy for identifying African GA was observed for the risk allele DRB1*09:01AUC = 0.679 and for the protective alleles DRB1*03:02 AUC = 0.649, DRB1*11:02 AUC = 0.636, and DRB1*15:03 AUC = 0.690. Higher percentage of European GA was observed in patients with risk haplotypes (p < 0.05). African GA percentage was higher in patients with protective haplotypes (p < 0.05). Risk alleles and haplotypes were related to European GA and protective alleles/haplotypes to African GA. Future studies with other ancestry markers are warranted to fill the gap in knowledge regarding the genetic origin of T1D in highly admixed populations such as that found in Brazil. Full article
(This article belongs to the Special Issue Genetics of Autoimmune Diseases)
►▼ Show Figures

Figure 1

12 pages, 904 KiB  
Article
IL-21 (rs2055979 and rs2221903)/IL-21R (rs3093301) Polymorphism and High Levels of IL-21 Are Associated with Rheumatoid Arthritis in Mexican Patients
by Noemi Magdalena Carreño-Saavedra, Itzel Viridiana Reyes-Pérez, Andrea Carolina Machado-Sulbaran, Gloria Esther Martínez-Bonilla, María Guadalupe Ramírez-Dueñas, José Francisco Muñoz-Valle, Valeria Olaya-Valdiviezo, Trinidad García-Iglesias, Erika Aurora Martínez-García and Pedro Ernesto Sánchez-Hernández
Genes 2023, 14(4), 878; https://doi.org/10.3390/genes14040878 - 07 Apr 2023
Cited by 1 | Viewed by 1344
Abstract
Rheumatoid Arthritis (RA) is characterized by joint destruction, chronic inflammation, and autoantibody production. IL-21/IL-21R plays an essential role in the immunopathology of RA. Elevated IL-21 serum levels have been associated with RA and disease activity. Here, we evaluated the association of IL-21/ [...] Read more.
Rheumatoid Arthritis (RA) is characterized by joint destruction, chronic inflammation, and autoantibody production. IL-21/IL-21R plays an essential role in the immunopathology of RA. Elevated IL-21 serum levels have been associated with RA and disease activity. Here, we evaluated the association of IL-21/IL-21R polymorphisms and IL-21 serum levels with RA. The study included 275 RA patients and 280 Control subjects (CSs). Single nucleotide polymorphisms IL-21 (rs2055979 and rs2221903) and IL-21R (rs3093301) were genotyped using PCR-RFLP. Clinical activity was evaluated by DAS28-ESR; IL-21 and anti-CCP serum levels were quantified by ELISA. The IL-21 rs2055979 AA genotype was higher in RA patients than in the CS group (p = 0.0216, OR = 1.761, 95% CI = 1.085–2.859); furthermore, RA patients showed anti-CCP elevated levels compared to the CA genotype (p = 0.0296). The IL21R rs3093301 AA genotype was also higher in RA patients than in the CS group (p = 0.0122, OR = 1.965, 95% CI = 1.153–3.348). The AT haplotypes of IL-21 rs2055979 and rs2221903 were more frequent (49%) in the RA group (p = 0.006). IL-21 serum levels were significantly elevated in the RA group, but without an association with IL-21 polymorphisms. In conclusion, IL-21 rs2255979 and IL-21R rs3093301 are associated with a higher risk of RA, and could be a genetic marker. Moreover, the elevated IL-21 levels in RA suggest that IL-21/IL-21R could be a therapeutic target in RA. Full article
(This article belongs to the Special Issue Genetics of Autoimmune Diseases)
►▼ Show Figures

Figure 1

Review

Jump to: Research, Other

11 pages, 1052 KiB  
Review
Functional Genetics to Understand the Etiology of Autoimmunity
by Hiroaki Hatano and Kazuyoshi Ishigaki
Genes 2023, 14(3), 572; https://doi.org/10.3390/genes14030572 - 24 Feb 2023
Cited by 1 | Viewed by 1369
Abstract
Common variants strongly influence the risk of human autoimmunity. Two categories of variants contribute substantially to the risk: (i) coding variants of HLA genes and (ii) non-coding variants at the non-HLA loci. We recently developed a novel analytic pipeline of T cell [...] Read more.
Common variants strongly influence the risk of human autoimmunity. Two categories of variants contribute substantially to the risk: (i) coding variants of HLA genes and (ii) non-coding variants at the non-HLA loci. We recently developed a novel analytic pipeline of T cell receptor (TCR) repertoire to understand how HLA coding variants influence the risk. We identified that the risk variants increase the frequency of auto-reactive T cells. In addition, to understand how non-coding variants contribute to the risk, the researchers conducted integrative analyses using expression quantitative trait loci (eQTL) and splicing quantitative trait loci (sQTL) and demonstrated that the risk non-coding variants dysregulate specific genes’ expression and splicing. These studies provided novel insight into the immunological consequences of two major genetic risks, and we will introduce these research achievements in detail in this review. Full article
(This article belongs to the Special Issue Genetics of Autoimmune Diseases)
►▼ Show Figures

Figure 1

17 pages, 5048 KiB  
Review
The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update
by Yuki Hitomi and Minoru Nakamura
Genes 2023, 14(2), 405; https://doi.org/10.3390/genes14020405 - 03 Feb 2023
Cited by 7 | Viewed by 1966
Abstract
Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which the small intrahepatic bile ducts are destroyed by autoimmune reactions. Among autoimmune diseases, which are polygenic complex traits caused by the combined contribution of genetic and environmental factors, PBC exhibits [...] Read more.
Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which the small intrahepatic bile ducts are destroyed by autoimmune reactions. Among autoimmune diseases, which are polygenic complex traits caused by the combined contribution of genetic and environmental factors, PBC exhibits the strongest involvement of genetic heritability in disease development. As at December 2022, genome-wide association studies (GWASs) and associated meta-analyses identified approximately 70 PBC susceptibility gene loci in various populations, including those of European and East Asian descent. However, the molecular mechanisms through which these susceptibility loci affect the pathogenesis of PBC are not fully understood. This study provides an overview of current data regarding the genetic factors of PBC as well as post-GWAS approaches to identifying primary functional variants and effector genes in disease-susceptibility loci. Possible mechanisms of these genetic factors in the development of PBC are also discussed, focusing on four major disease pathways identified by in silico gene set analyses, namely, (1) antigen presentation by human leukocyte antigens, (2) interleukin-12-related pathways, (3) cellular responses to tumor necrosis factor, and (4) B cell activation, maturation, and differentiation pathways. Full article
(This article belongs to the Special Issue Genetics of Autoimmune Diseases)
►▼ Show Figures

Figure 1

Other

Jump to: Research, Review

16 pages, 705 KiB  
Perspective
The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective
by Lotta M. Vaskimo, Georgy Gomon, Najib Naamane, Heather J. Cordell, Arthur Pratt and Rachel Knevel
Genes 2023, 14(12), 2167; https://doi.org/10.3390/genes14122167 - 01 Dec 2023
Viewed by 1044
Abstract
Modest effect sizes have limited the clinical applicability of genetic associations with rheumatic diseases. Genetic risk scores (GRSs) have emerged as a promising solution to translate genetics into useful tools. In this review, we provide an overview of the recent literature on GRSs [...] Read more.
Modest effect sizes have limited the clinical applicability of genetic associations with rheumatic diseases. Genetic risk scores (GRSs) have emerged as a promising solution to translate genetics into useful tools. In this review, we provide an overview of the recent literature on GRSs in rheumatic diseases. We describe six categories for which GRSs are used: (a) disease (outcome) prediction, (b) genetic commonalities between diseases, (c) disease differentiation, (d) interplay between genetics and environmental factors, (e) heritability and transferability, and (f) detecting causal relationships between traits. In our review of the literature, we identified current lacunas and opportunities for future work. First, the shortage of non-European genetic data restricts the application of many GRSs to European populations. Next, many GRSs are tested in settings enriched for cases that limit the transferability to real life. If intended for clinical application, GRSs are ideally tested in the relevant setting. Finally, there is much to elucidate regarding the co-occurrence of clinical traits to identify shared causal paths and elucidate relationships between the diseases. GRSs are useful instruments for this. Overall, the ever-continuing research on GRSs gives a hopeful outlook into the future of GRSs and indicates significant progress in their potential applications. Full article
(This article belongs to the Special Issue Genetics of Autoimmune Diseases)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-6
Back to TopTop