Introduction: Ankylosing spondylitis (AS) and psoriatic arthritis (PsA) are classified as spondyloarthritis (SpA), a group of inflammatory rheumatic diseases with complex genetic etiology. Toll-like receptors (TLRs) have an important role in the mechanism of innate immunity and may influence inflammatory responses. Polymorphisms in genes that lead to changes in these receptors or that interfere with the transcription rates of mRNA TLR may be involved in the chronic inflammatory immune response observed in SpA. Currently, there is a lack of studies associating genetic polymorphisms in and SpA.
Objective: Therefore, this case-control study is aimed at analyzing the influence of the respective SNPs on , , and and in the immunopathogenesis of SpA.
Methods: The polymorphisms genotyped by PCR-RFLP were , , and and . The was performed by PCR-SSP.
Results: Logistic regression analysis showed a strong association between SNPs in and and susceptibility to SpA (OR = 12.56; CI = 6.5-25.9 and OR = 1.62; CI = 1.20-2.21, respectively). No association was observed among and polymorphisms ( = 0.72), nor among BASDAI and polymorphisms ( = 0.85).
Discussion: Our findings suggest that polymorphisms in and genes may contribute to the immunopathogenesis of the SpA. The , , and polymorphisms were associated with the risk of SpA development, in this study, and lead to significant changes in the innate and adaptive immune response profile, as well as the maintenance of the regulation of immunological mechanisms.
Conclusion: The polymorphism for the and the haplotypes appear to be involved in the development of clinical forms of SpA and can be a possible therapeutic target for the spondyloarthritis.
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http://dx.doi.org/10.1155/2019/1492092 | DOI Listing |
Microbiol Spectr
January 2025
Department of Pharmacology, Showa University Graduate School of Medicine, Shinagawa, Tokyo, Japan.
Unlabelled: The concept of genome-microbiome interactions, in which the microenvironment determined by host genetic polymorphisms regulates the local microbiota, is important in the pathogenesis of human disease. In otolaryngology, the resident bacterial microbiota is reportedly altered in non-infectious ear diseases, such as otitis media pearls and exudative otitis media. We hypothesized that a single-nucleotide polymorphism in the ATP-binding cassette sub-family C member 11 () gene, which determines earwax properties, regulates the ear canal microbiota.
View Article and Find Full Text PDFCancer Med
January 2025
Cancer Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Background: This study aims to elucidate the expression pattern of SERPINE1, assess its prognostic significance, and explore potential therapeutic drugs targeting this molecule.
Methods And Results: In this study, we delved into the variations in gene mutation, methylation patterns, and expression levels of SERPINE1 in head and neck squamous cell carcinoma (HNSCC) and normal tissues, leveraging comprehensive analyses of The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) datasets. The connection between the biological function of the gene and prognosis was scrutinized through immune infiltration and enrichment analyses.
Front Parasitol
April 2024
Centre for Malaria Elimination, Institute of Tropical Medicine, Mount Kenya University, Thika, Kenya.
The Circumsporozoite Protein (PfCSP) has been used in developing the RTS,S, and R21 malaria vaccines. However, genetic polymorphisms within compromise the effectiveness of the vaccine. Thus, it is essential to continuously assess the genetic diversity of , especially when deploying it across different geographical regions.
View Article and Find Full Text PDFWorld J Gastrointest Oncol
January 2025
Department of Thoracic Surgery, Zhongshan Hospital Affiliated to Fudan University, Shanghai 200032, China.
Background: Transforming growth factor-β (TGF-β) superfamily plays an important role in tumor progression and metastasis. Activin A receptor type 1C (ACVR1C) is a TGF-β type I receptor that is involved in tumorigenesis through binding to different ligands.
Aim: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.
JACC Adv
December 2024
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Plant-based dietary patterns are becoming increasingly popular due to environmental and health impacts, yet there are few studies exploring the relationship between plant-based dietary patterns and venous thromboembolism (VTE) in different genetic backgrounds.
Objectives: The aim of this study was to investigate how plant-based dietary pattern and genetic susceptibility independently or jointly affect VTE and its subtypes of pulmonary embolism and deep vein thrombosis.
Methods: A total of 183,510 participants who were White British ethnicity background and free of VTE at baseline in the UK Biobank were recruited, in consideration that the selection of genetic variants for VTE was based on results of White European individuals.
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