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New Insights into the Genetics of Rheumatic Diseases
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New Insights into the Genetics of Rheumatic Diseases

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

Deadline for manuscript submissions: closed (20 December 2022) | Viewed by 5491

Special Issue Editor

Dr. Hauke Thomsen

E-Mail Website
Guest Editor
GeneWerk GmbH, Im Neuenheimer Feld 582, D-69120 Heidelberg, Germany
Interests: bioinformatics; cancer; epidemiology; genetics; rheumatic diseases; multiple myeloma; statistics

Special Issue Information

Dear Colleagues,

Rheumatic diseases refer to a group of autoimmune and inflammatory disorders affecting joints, bones, cartilage, tendons, ligaments and muscles. These disorders affect an important fraction of the population and lead to increased health medical costs, disability and early mortality. Many rheumatic diseases, such as gout, osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus, juvenile idiopathic arthritis and psoriatic arthritis, have a genetic background. Understanding how an individual's genetic setting influences the disease onset and outcome can lead to a better understanding of disease biology, improved diagnosis and treatment, and, ultimately, to disease prevention or cure. Due to improved technology the past decade has seen great progress in the identification of genetic variants that influence the risk of rheumatic diseases.

 This Special Issue welcomes reviews and original articles related to recent advances in rheumatic diseases studies to increase our knowledge of genetic susceptibility, genetic variations, and genetic interactions with other diseases contributing to pathogenesis and move towards potential future treatments of rheumatic conditions.

Dr. Hauke Thomsen
Guest Editor

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

  • rheumatic diseases
  • autoimmune diseases
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • osteoarthritis
  • genetic susceptibility

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

11 pages, 432 KiB  
Article
MIR149 rs2292832 and MIR499 rs3746444 Genetic Variants Associated with the Risk of Rheumatoid Arthritis
by Yasir Ali, Yangchao Chen, Zia Ul Islam, Aisha Aman, Mashal M. Almutairi, Abdulaziz Alouffi, Aymen Mohammed, Aftab Ali Shah, Zia Ur Rehman, Ibrar Hussain, Abid Ali and Fazal Jalil
Genes 2023, 14(2), 431; https://doi.org/10.3390/genes14020431 - 8 Feb 2023
Cited by 2 | Viewed by 2347
Abstract
Introduction: MicroRNAs (miRNAs) are small non-coding RNAs that play a key role in post-transcriptional modulation of individual genes’ expression. Several miRNA variants from different populations are known to be associated with an increased risk of rheumatoid arthritis (RA). Aim: This study was undertaken [...] Read more.
Introduction: MicroRNAs (miRNAs) are small non-coding RNAs that play a key role in post-transcriptional modulation of individual genes’ expression. Several miRNA variants from different populations are known to be associated with an increased risk of rheumatoid arthritis (RA). Aim: This study was undertaken with the aim to investigate the association of single nucleotide variants; namely, rs2292832, rs3746444, rs11614913, rs1044165, and rs767649 of MIR149, MIR499, MIR196, MIR223, and MIR155, respectively, with RA in the Pakistani population. Methods: A case-control study was performed by recruiting and genotyping a total of 600 individuals (300 cases and 300 controls) for these five variants using a TaqMan single-nucleotide polymorphism (SNP) genotyping assay. The resultant genotypic data was statistically analyzed through a chi-squared test for its association with RA under different inheritance models. Results: We found a significant association of rs2292832 with RA at genotypic (co-dominant (p < 0.0001), dominant (CC vs. TT + CT: OR 2.063 (1.437–2.962); p = 0.0001), recessive (TT vs. CT + CC: OR 0.376 (0.259–0.548); p < 0.0001)), and allelic (allele C) levels ((OR 0.506 (0.402–0637); p < 0.0001)). Similarly, the rs3746444 showed a significant association with RA under co-dominant (p = 0.0001), dominant (GG vs. AA + AG: OR 5.246 (3.414–8.061); p < 0.0001), recessive (AA vs. GG + AG: OR 0.653 (0.466–0.916); p = 0.014), and additive models (G vs. A; OR 0.779 (0.620–0.978); p = 0.03). However, we did not observe any significant association of rs11614913, rs1044165, or rs767649 with RA in our subjects. Conclusion: To our knowledge, this was the first study that investigated and found an association between functional polymorphisms in miRNAs and RA in the Pakistani population. Full article
(This article belongs to the Special Issue New Insights into the Genetics of Rheumatic Diseases)
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20 pages, 1772 KiB  
Article
Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients
by Mónica R. Meza-Meza, Barbara Vizmanos, Melissa Rivera-Escoto, Adolfo I. Ruiz-Ballesteros, Karen Pesqueda-Cendejas, Isela Parra-Rojas, Margarita Montoya-Buelna, Sonia Luquín, Bertha Campos-López, Paulina E. Mora-García, Sergio Cerpa-Cruz and Ulises De la Cruz-Mosso
Genes 2022, 13(11), 2016; https://doi.org/10.3390/genes13112016 - 3 Nov 2022
Cited by 14 | Viewed by 2606
Abstract
Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine the association of [...] Read more.
Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine the association of the VDR variants FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) with susceptibility to the disease, VD status, VDR mRNA expression, and clinical disease activity in SLE patients. A cross-sectional study was conducted in 194 SLE and 196 CS Mexican women. Immunoassays quantified serum calcidiol and calcitriol. Genotyping was performed by allelic discrimination assays and mRNA VDR expression by qPCR. The FokI variant was not in linkage disequilibrium with BsmI, ApaI, and TaqI VDR variants. SLE patient carriers of the TT FokI genotype showed higher clinical disease activity scores. Notably, the mRNA VDR expression was higher in SLE patients vs. CS, in active vs. inactive SLE patients, and in participants of both study groups with vitamin D deficiency, higher calcitriol levels, and TT FokI genotype carriers. In conclusion, the TT FokI VDR genotype was related to high VDR expression and clinical disease activity in systemic lupus erythematosus patients. Full article
(This article belongs to the Special Issue New Insights into the Genetics of Rheumatic Diseases)
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