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Autoimmune Disease Genetics Volume II
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Autoimmune Disease Genetics Volume II

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

Deadline for manuscript submissions: closed (20 June 2024) | Viewed by 11528

Special Issue Editors

Prof. Dr. Artur Bossowski

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Guest Editor
Department of Pediatrics, Endocrinology, Diabetology with Cardiology Unit, Medical University of Bialystok, 15-274 Bialystok, Poland
Interests: genetic pathomechanisms in autoimmune diseases; pediatric endocrinology; diabetology
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Malgorzata Wasniewska

E-Mail Website
Guest Editor
Department of Human Pathology of Adult- and Childhood, University of Messina, Messina, Italy
Interests: pediatric endocrinology; autoimmune diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Autoimmune diseases (ADs) are characterized by a multifactorial etiology, in which genetic and environmental factors are responsible for the loss of immunological tolerance.

The different genetic factors could be associated not only with disease susceptibility but also with specific autoantibodies and disease phenotypes. The recognition of specific genetic variants might help us better understand the pathogenic mechanisms of ADs and identify patients with a more aggressive clinical course of disease. Knowledge of new aspects of ADs could help us better understand disease etiology and treatment response and also contribute to the development of new therapies. The main objective of this Special Issue is to provide an update on the most important topics related to autoimmune disease genetics, with particular attention to organ-specific ones. In addition, we are interested in highlighting studies on comorbidities ADs and their interrelationships. Furthermore, we hope to carry out a comparison between researchers and clinicians with the aim of transferring the most recent innovations into daily practice, adopting shared lines of behavior, and, thus, strengthening the integration between these two groups.

This will be accomplished in the form of a collection of original research and systematic review articles.

Prof. Dr. Artur Bossowski
Prof. Dr. Malgorzata Wasniewska
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
  • endocrine gland
  • genetic syndrome
  • genetic polymorphism
  • genetic pathomechanism

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Published Papers (6 papers)

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Research

10 pages, 567 KiB  
Article
Genetic Variants of the Receptor Activator Nuclear of κB Ligand Gene Increase the Risk of Rheumatoid Arthritis in a Mexican Mestizo Population: A Case–Control Study
by Nava-Valdivia Cesar Arturo, Gamez-Nava Jorge Ivan, Contreras-Haro Betsabe, Perez-Guerrero Edsaul Emilio, Esparza-Guerrero Yussef, Rodriguez-Jimenez Norma Alejandra, Gonzalez-Heredia Tonatiuh, Villagomez-Vega Alejandra, Nuño-Arana Ismael, Totsuka-Sutto Sylvia Elena, Ponce-Guarneros Juan Manuel, Jacobo-Cuevas Heriberto, Alvarez-Ayala Efren Gerardo, Gonzalez-Lopez Laura and Saldaña-Cruz Ana Miriam
Genes 2024, 15(7), 907; https://doi.org/10.3390/genes15070907 - 11 Jul 2024
Viewed by 973
Abstract
The Receptor Activator Nuclear of κB Ligand (RANKL) plays an important function in immune responses, activating osteoclast cells and unchanged bone resorption, which in turn leads to bone erosion and inflammation. Genetic variants in the promoter region of the RANKL gene could lead [...] Read more.
The Receptor Activator Nuclear of κB Ligand (RANKL) plays an important function in immune responses, activating osteoclast cells and unchanged bone resorption, which in turn leads to bone erosion and inflammation. Genetic variants in the promoter region of the RANKL gene could lead to a higher risk of rheumatoid arthritis (RA). Objective: To assess the association of rs9533155 (-693C>G) and rs9533156 (-643T>C) genetic variants with RA risk. Methods: A case–control study was carried out. A total of 94 patients with RA (RA group) and 134 subjects without any rheumatologic disease (control group) were included. Genetic DNA was extracted from peripheral white blood cells (leukocytes). Genetic variant rs9533155 (-693C>G) was screened by an approach based on Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR-RFLP), while rs9533156 (-643T>C) was screened using quantitative polymerase chain reaction (qPCR) with TaqMan probes. RANKL serum levels were measured by ELISA. Results: For rs9533155 (-693C>G), the polymorphic homozygous genotype frequencies (CC) were higher in the RA group (p = 0.006). Individuals carrying the risk genotype presented higher levels of serum RANKL. Carriers of the polymorphic homozygous genotype in the dominant model (CC vs. CG + GG) had an increased risk of developing RA (OR: 1.8, 95% CI 1.04 to 3.1). No association between rs9533156 (-643T>C) and the haplotypes with RA risk was observed. Conclusion: The rs9533155 (-693C>G) genetic variant exhibits a potential role in RA risk. The studied population had no association with the rs9533156 (-643T>C) genetic variant. Full article
(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
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10 pages, 1347 KiB  
Article
Transcriptomic Profiling of Peripheral B Cells in Antibody Positive Sjogren’s Patients Reveals Interferon Signature
by Mehrnaz Maleki-Fischbach, Kelsey Anderson and Evans R. Fernández Pérez
Genes 2024, 15(5), 628; https://doi.org/10.3390/genes15050628 - 15 May 2024
Viewed by 1305
Abstract
Background: Sjögren’s disease (SjD) is a common systemic autoimmune disease that affects mainly women. Key pathologic features include the infiltration of exocrine glands by lymphocytes and the activation of B lymphocytes with the production of autoantibodies. We aimed to analyze the transcriptome of [...] Read more.
Background: Sjögren’s disease (SjD) is a common systemic autoimmune disease that affects mainly women. Key pathologic features include the infiltration of exocrine glands by lymphocytes and the activation of B lymphocytes with the production of autoantibodies. We aimed to analyze the transcriptome of circulating B cells from patients with SJD and healthy controls to decipher the B-cell-specific contribution to SJD. Methods: RNA from peripheral blood B cells of five untreated female patients with SjD and positive ANA, positive anti-SSA (both Ro-52 and Ro-60), positive anti-SSB and positive rheumatoid-factor, and five healthy controls was subjected to whole-transcriptome sequencing. A false discovery rate of < 0.1 was applied to define differentially expressed genes (DEG). Results: RNA-sequencing identified 56 up and 23 down DEG. Hierarchal clustering showed a clear separation between the two groups. Ingenuity pathway analysis revealed that these genes may play a role in interferon signaling, chronic mycobacterial infection, and transformation to myeloproliferative disorders. Conclusions: We found upregulated expression of type-I and type-II interferon (IFN)-induced genes, as well as genes that may contribute to other concomitant conditions, including infections and a higher risk of myeloproliferative disorders. This adds insight into the autoimmune process and suggests potential targets for future functional and prognostic studies. Full article
(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
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15 pages, 391 KiB  
Article
STAT4 Gene Variant rs7574865 Is Associated with Rheumatoid Arthritis Activity and Anti-CCP Levels in the Western but Not in the Southern Population of Mexico
by Karla Mayela Bravo-Villagra, José Francisco Muñoz-Valle, Christian Johana Baños-Hernández, Sergio Cerpa-Cruz, José Eduardo Navarro-Zarza, Isela Parra-Rojas, José Alonso Aguilar-Velázquez, Samuel García-Arellano and Andres López-Quintero
Genes 2024, 15(2), 241; https://doi.org/10.3390/genes15020241 - 14 Feb 2024
Cited by 2 | Viewed by 2113
Abstract
Rheumatoid Arthritis (RA) is a multifactorial autoimmune disease. Currently, several genes play an important role in the development of the disease. The objective was to evaluate the association of the STAT4 rs7574865 and rs897200 gene variants with RA susceptibility, DAS28, RF, and anti-CCP in [...] Read more.
Rheumatoid Arthritis (RA) is a multifactorial autoimmune disease. Currently, several genes play an important role in the development of the disease. The objective was to evaluate the association of the STAT4 rs7574865 and rs897200 gene variants with RA susceptibility, DAS28, RF, and anti-CCP in Western and Southern Mexico populations. Genotyping was performed on 476 samples (cases = 240; controls = 236) using the Taqman® system and qPCR probes. Disease activity was assessed using DAS28 and HAQ DI. CRP, ESR, RF, and anti-CCP were determined for clinical assessment. Our study showed there is a statistically significant association with susceptibility to RA for the rs7574865 variant in the Western population for the GT and TT genotypes. The same genotypes also showed a moderate-to-high activity according to DAS28 and positive anti-CCP compared to the control group. This association was not found in the Southern population. This work confirms the association of the rs7574865 variant with RA, as well as a moderate-to-high activity and positive anti-CCP in the Western population but not in the Southern population. No association of the rs897200 variant was found in any of the studied populations. Full article
(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
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Graphical abstract

10 pages, 465 KiB  
Article
The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor Inhibitors
by Andrea Latini, Giada De Benedittis, Paola Conigliaro, Chiara Bonini, Chiara Morgante, Maria Iacovantuono, Arianna D’Antonio, Alberto Bergamini, Giuseppe Novelli, Maria Sole Chimenti, Cinzia Ciccacci and Paola Borgiani
Genes 2024, 15(2), 234; https://doi.org/10.3390/genes15020234 - 12 Feb 2024
Cited by 1 | Viewed by 1636
Abstract
The vitamin D receptor (VDR), binding to the active form of the vitamin, promotes the transcription of numerous genes involved in the proliferation of immune cells, cytokine production and lymphocyte activation. It is known that vitamin D deficiency can influence the risk of [...] Read more.
The vitamin D receptor (VDR), binding to the active form of the vitamin, promotes the transcription of numerous genes involved in the proliferation of immune cells, cytokine production and lymphocyte activation. It is known that vitamin D deficiency can influence the risk of developing rheumatoid arthritis (RA) or modulate its disease activity. The aim of this study was to investigate a possible association between the rs11568820 (C > T) polymorphism in the promoter region of VDR gene and the response to therapy with anti-TNF drugs in patients with RA. A total of 178 consecutive Italian patients with RA treated with anti-TNF, naïve for biological therapy, were recruited. Disease activity data were evaluated using specific indices such as DAS28, CDAI and SDAI, measured at the start of therapy and subsequently at 22, 52, 104 and 240 weeks. A statistically significant association emerged between the rs11568820 variant allele of VDR gene and failure to remission assessed by CDAI and SDAI at 52 weeks, and by DAS28, CDAI and SDAI at 104 weeks of follow-up. Furthermore, the variant allele of this polymorphism was observed more frequently in patients who did not undergo sustained remission calculated by CDAI and SDAI. The variant T allele of rs11568820 in VDR gene is associated with a reduced remission rate with anti-TNFα drugs. These data suggest the role of VDR genetic variability in the response to therapy and in the achievement of remission. Full article
(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
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16 pages, 2126 KiB  
Article
Children with Chronic Immune Thrombocytopenia Exhibit High Expression of Human Endogenous Retroviruses TRIM28 and SETDB1
by Pier-Angelo Tovo, Ilaria Galliano, Emilia Parodi, Cristina Calvi, Stefano Gambarino, Francesco Licciardi, Maddalena Dini, Paola Montanari, Margherita Branca, Ugo Ramenghi and Massimiliano Bergallo
Genes 2023, 14(8), 1569; https://doi.org/10.3390/genes14081569 - 1 Aug 2023
Cited by 1 | Viewed by 1786
Abstract
Chronic immune thrombocytopenia (CITP) is an autoimmune disease whose underlying biologic mechanisms remain elusive. Human endogenous retroviruses (HERVs) derive from ancestral infections and constitute about 8% of our genome. A wealth of clinical and experimental studies highlights their pivotal pathogenetic role in autoimmune [...] Read more.
Chronic immune thrombocytopenia (CITP) is an autoimmune disease whose underlying biologic mechanisms remain elusive. Human endogenous retroviruses (HERVs) derive from ancestral infections and constitute about 8% of our genome. A wealth of clinical and experimental studies highlights their pivotal pathogenetic role in autoimmune diseases. Epigenetic mechanisms, such as those modulated by TRIM28 and SETDB1, are involved in HERV activation and regulation of immune response. We assessed, through a polymerase chain reaction real-time Taqman amplification assay, the transcription levels of pol genes of HERV-H, HERV-K, and HERV-W; env genes of Syncytin (SYN)1, SYN2, and HERV-W; as well as TRIM28 and SETDB1 in whole blood from 34 children with CITP and age-matched healthy controls (HC). The transcriptional levels of all HERV sequences, with the exception of HERV-W-env, were significantly enhanced in children with CITP as compared to HC. Patients on eltrombopag treatment exhibited lower expression of SYN1, SYN2, and HERV-W-env as compared to untreated patients. The mRNA concentrations of TRIM28 and SETDB1 were significantly higher and were positively correlated with those of HERVs in CITP patients. The over-expressions of HERVs and TRIM28/SETDB1 and their positive correlations in patients with CITP are suggestive clues of their contribution to the pathogenesis of the disease and support innovative interventions to inhibit HERV and TRIM28/SETDB1 expressions in patients unresponsive to standard therapies. Full article
(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
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15 pages, 9432 KiB  
Article
SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis
by Piranit Kantaputra, Teerada Daroontum, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Charoen Choonhakarn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Patrizia Pontisso, Timothy C. Cox and Puey Ounjai
Genes 2023, 14(2), 266; https://doi.org/10.3390/genes14020266 - 19 Jan 2023
Cited by 5 | Viewed by 2693
Abstract
Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare and severe pustular autoinflammatory skin disease in which acute generalized erythema and scaling develop with numerous sterile pustules. GPP shares skin manifestations, especially pustular skin reaction, with adult-onset immunodeficiency (AOID) with anti-interferon-γ autoantibodies, [...] Read more.
Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare and severe pustular autoinflammatory skin disease in which acute generalized erythema and scaling develop with numerous sterile pustules. GPP shares skin manifestations, especially pustular skin reaction, with adult-onset immunodeficiency (AOID) with anti-interferon-γ autoantibodies, an autoimmune disease. Methods: Clinical examinations and whole-exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Immunohistochemical and histopathological studies were performed. Results: WES identified three Thai patients presenting with similar pustular phenotypes—two with a diagnosis of AOID and the other with GPP. A heterozygous missense variant chr18:g.61325778C>A NM_006919.2: c.438G>T; NP_008850.1: p.Lys146Asn; rs193238900 in SERPINB3 was identified in two patients: one with GPP and the other with AOID. The other patient who had AOID carried a heterozygous missense variant chr18:g.61323147T>C NM_006919.2: c.917A>G; NP_008850.1: p.Asp306Gly in SERPINB3. Immunohistochemical studies showed overexpression of SERPINA1 and SERPINB3, a hallmark of psoriatic skin lesions. Conclusions: Genetic variants in SERPINB3 are associated with GPP and AOID with pustular skin reaction. The skin of patients with GPP and AOID carrying SERPINB3 mutations showed overexpression of SERPINB3 and SERPINA1. Clinically and genetically, GPP and AOID appear to share pathogenetic mechanisms. Full article
(This article belongs to the Special Issue Autoimmune Disease Genetics Volume II)
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