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Background: Angiotensin-converting enzyme (ACE) 1 gene polymorphisms have been implicated in various diseases affecting the kidneys, with most studies implicating an association of the D allele or DD genotype with the susceptibility to a certain disease, such as end-stage renal disease (ESRD), diabetic nephropathy and IgA vasculitis nephritis. Other studies, however, do not show an association between ACE 1 gene polymorphisms and progression of renal failure in polycystic kidney disease or kidney function in renal transplant patients. The role of ACE 1 gene polymorphisms in systemic sclerosis-associated renal disease (SSc-RD) remains unknown. Objectives: The aim of the study was to determine whether ACE 1 gene polymorphisms have an effect on renal function in systemic sclerosis (SSc). Methods: We are presenting a retrospective observational study in patients with SSc and analysing the association of ACE 1 gene polymorphisms (DD, II and ID) with renal function measured by creatinine values, estimated glomerular filtration rate (eGFR) and proteinuria over three different periods of time (at the time of the diagnosis, 5 and 10 years after the diagnosis). At the time of diagnosis data was available for 135 patients, after 5 years of follow-up for 105 patients and after ten years of follow-up for 70 patients. In statistical analysis Kruskal-Wallis test was used with p value <0.05 considered statistically significant. Results: We found no statistically significant differences in renal function in SSc patients according to their ACE gene 1 polymorphism over the analysed periods (at the time of diagnosis creatinine values p=0.823, eGFR p=0.327, proteinuria p=0.364, after 5 years creatinine values p=0.972, eGFR p=0.562, proteinuria p=0.764, after 10 years creatinine values p=0.469, eGFR p=0.181, proteinuria p=0.440). During 10 years of follow up, SSc renal crisis occurred in just one patient and there was no statistical difference observed in dynamics of creatinine values, eGFR and proteinuria during 10 years of follow-up between different groups of patients according to their polymorphism. Conclusion: Our study suggests that ACE 1 gene polymorphisms do not have a role in renal function in SSc. However, further studies are needed to explain the exact role of ACE 1 gene polymorphisms in SSc renal disease and SSc in general. REFERENCES: NIL. Acknowledgements: NIL. Disclosure of Interests: None declared.
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Karanović et al. (2024) studied this question.
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