Investigating the Role of Genetic Predisposition in Developing Rheumatoid Arthritis
DOI:
https://doi.org/10.62497/IRABCS.2024.69Keywords:
Rheumatoid Arthritis, HLA-DR Antigens, PTPN22 Protein, STAT4 Transcription Factor, Genetic Disease, Inflammation, EpigenomicsAbstract
Background: A chronic autoimmune disease called rheumatoid arthritis (RA) is impacted by both environmental and genetic factors. This work explores the impact of genetic predisposition in the development of RA, focusing on the HLA-DRB1 common epitope, PTPN22, and STAT4 gene variations.
Objectives: In a cohort from Hayatabad Medical Complex (HMC), the research sought to evaluate the relationship between important genetic markers and RA susceptibility as well as investigate the interplay between genetic predisposition and environmental variables, such as smoking.
Methods: 132 RA patients participated in a cross-sectional research that ended in August 2024. To determine the existence of HLA-DRB1, PTPN22, and STAT4 gene variations, genetic analysis was done. The strength of relationships was determined by calculating odds ratios, or ORs. Analysis was also done on the relationship between smoking and the common epitope of HLA-DRB1. At p < 0.05, statistical significance was established.
Results: The common epitope between HLA-DRB1 and RA was substantially correlated (OR = 3.45, p < 0.001). While STAT4 did not exhibit a significant correlation with RA (OR = 1.29, p = 0.365), PTPN22 was likewise associated with RA (OR = 2.15, p = 0.009). Compared to non-smokers (OR = 2.18, p = 0.021), smokers with the HLA-DRB1 allele had a significantly higher risk of RA (OR = 5.87, p < 0.001).
Conclusions: The main genetic indicators for RA susceptibility are HLA-DRB1 and PTPN22, and smoking greatly increases the risk in those who are genetically susceptible to the condition. These results emphasize the value of lifestyle changes and customized risk assessment in the prevention of RA.
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Copyright (c) 2024 Nishwa Tul Eman, Sandal Rafiq, Aqsa Hayat, Natasha Imtiaz, Sabir Hussain, Mansoor Ahmad (Author)
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