NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study
Background: Chronic spontaneous urticaria (CSU) is a persistent skin condition with no known cause or trigger. The unpredictability of CSU attacks lowers patients' quality of life. NOD-like receptor pyrin domain containing 3 (NLRP3) gene dysregulation can result in numerous immunological and in...
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Elsevier
2025-01-01
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| Series: | Immunobiology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S0171298525000026 |
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| author | Aya El Gendy Fawzia Hassan Abo Ali Shereen A. Baioumy Sara I. Taha Mahy El -Bassiouny Osama M. Abdel Latif |
| author_facet | Aya El Gendy Fawzia Hassan Abo Ali Shereen A. Baioumy Sara I. Taha Mahy El -Bassiouny Osama M. Abdel Latif |
| author_sort | Aya El Gendy |
| collection | DOAJ |
| description | Background: Chronic spontaneous urticaria (CSU) is a persistent skin condition with no known cause or trigger. The unpredictability of CSU attacks lowers patients' quality of life. NOD-like receptor pyrin domain containing 3 (NLRP3) gene dysregulation can result in numerous immunological and inflammatory diseases. Objective: This case-control study aimed to determine the association between the NLRP3 inflammasome (rs10754558) single nucleotide polymorphism (SNP) and the occurrence, severity and etiology of CSU. Methods: Each study group included 62 participants; all were subjected to CSU severity evaluation by the urticaria activity score (UAS), autologous serum skin testing (ASST) and NLRP3 (rs10754558) genotyping. Results: The NLRP3 (rs10754558) CG genotype was the most predominant in both study groups, followed by the CC genotype (41.9 %) in the CSU group and the GG genotype (25.8 %) in the control group. Most of the CSU group (66.1 %) had the C allele, compared to most controls (53.2 %) with the G allele. The frequency of NLRP3 (rs10754558) genotypes and alleles did not differ significantly according to the severity of CSU by UAS (P > 0.05). The prevalence of the CC genotype was significantly higher among the ASST-positive CSU patients. The C allele elevated the likelihood of positive ASST in CSU patients by 21 times, suggesting the autoimmune theory of CSU. None of the ASST-positive patients had the GG genotype. Conclusion: The NLRP3 inflammasome (rs10754558) C allele may be associated with CSU risk but not severity by UAS. It may also be associated with ASST positivity which suggests a connection between the C-allele and the autoimmune notion of CSU. |
| format | Article |
| id | doaj-art-454ece9e5b0d48798ad8ce9dd4ee754f |
| institution | Kabale University |
| issn | 0171-2985 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Immunobiology |
| spelling | doaj-art-454ece9e5b0d48798ad8ce9dd4ee754f2025-01-27T04:21:42ZengElsevierImmunobiology0171-29852025-01-012301152868NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control studyAya El Gendy0Fawzia Hassan Abo Ali1Shereen A. Baioumy2Sara I. Taha3Mahy El -Bassiouny4Osama M. Abdel Latif5Department of Internal Medicine / Allergy and Clinical Immunology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Internal Medicine / Allergy and Clinical Immunology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Microbiology and Immunology, Faculty of Medicine, Zagazig University, EgyptDepartment of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt; Corresponding author at: Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, 11591 Abbasia, Cairo, Egypt.Department of Dermatology, Andrology and Venereology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Internal Medicine / Allergy and Clinical Immunology, Faculty of Medicine, Ain Shams University, Cairo, EgyptBackground: Chronic spontaneous urticaria (CSU) is a persistent skin condition with no known cause or trigger. The unpredictability of CSU attacks lowers patients' quality of life. NOD-like receptor pyrin domain containing 3 (NLRP3) gene dysregulation can result in numerous immunological and inflammatory diseases. Objective: This case-control study aimed to determine the association between the NLRP3 inflammasome (rs10754558) single nucleotide polymorphism (SNP) and the occurrence, severity and etiology of CSU. Methods: Each study group included 62 participants; all were subjected to CSU severity evaluation by the urticaria activity score (UAS), autologous serum skin testing (ASST) and NLRP3 (rs10754558) genotyping. Results: The NLRP3 (rs10754558) CG genotype was the most predominant in both study groups, followed by the CC genotype (41.9 %) in the CSU group and the GG genotype (25.8 %) in the control group. Most of the CSU group (66.1 %) had the C allele, compared to most controls (53.2 %) with the G allele. The frequency of NLRP3 (rs10754558) genotypes and alleles did not differ significantly according to the severity of CSU by UAS (P > 0.05). The prevalence of the CC genotype was significantly higher among the ASST-positive CSU patients. The C allele elevated the likelihood of positive ASST in CSU patients by 21 times, suggesting the autoimmune theory of CSU. None of the ASST-positive patients had the GG genotype. Conclusion: The NLRP3 inflammasome (rs10754558) C allele may be associated with CSU risk but not severity by UAS. It may also be associated with ASST positivity which suggests a connection between the C-allele and the autoimmune notion of CSU.http://www.sciencedirect.com/science/article/pii/S0171298525000026Chronic spontaneous urticariaInflammasomeNLRP3Polymorphismrs10754558Skin |
| spellingShingle | Aya El Gendy Fawzia Hassan Abo Ali Shereen A. Baioumy Sara I. Taha Mahy El -Bassiouny Osama M. Abdel Latif NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study Immunobiology Chronic spontaneous urticaria Inflammasome NLRP3 Polymorphism rs10754558 Skin |
| title | NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study |
| title_full | NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study |
| title_fullStr | NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study |
| title_full_unstemmed | NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study |
| title_short | NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study |
| title_sort | nod like receptor family pyrin domain containing 3 rs10754558 gene polymorphism in chronic spontaneous urticaria a pilot case control study |
| topic | Chronic spontaneous urticaria Inflammasome NLRP3 Polymorphism rs10754558 Skin |
| url | http://www.sciencedirect.com/science/article/pii/S0171298525000026 |
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