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Angiotensin-converting enzyme 1 gene polymorphisms in patients with systemic sclerosis-associated interstitial lung disease: a single centre retrospective observational study

  • Genes and Disease
  • Published:
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Abstract

Angiotensin-converting enzyme (ACE) 1 gene polymorphisms have been associated with vascular permeability, alveolar endothelial dysfunction and fibroblast proliferation and have been studied in pulmonary diseases such as COPD and idiopathic pulmonary fibrosis. Similar mechanisms of ACE 1 polymorphisms have been seen in patients with systemic sclerosis-associated interstitial lung disease (SSc-ILD). We are presenting a retrospective observational study in patients with SSc-ILD and analysing the association of ACE 1 gene polymorphisms (DD, II and ID) with the features of SSc, changes in pulmonary function tests (PFTs) and lung HRCT over three different periods of time (at the time of the diagnosis, 5 and 10 years after the diagnosis). The aim of the study was to determine whether ACE 1 gene polymorphisms have an effect on the severity of SSc-ILD. We found no statistically significant differences in the development and severity of SSc-ILD and changes in PFTs between subgroups of ACE 1 gene polymorphism over the analysed periods (at the time of diagnosis HRCT changes p = 0.270, FEV1 p = 0.483, FVC p = 0.497, DLco p = 0.807, after 5 years HRCT changes p = 0.163, FEV1 p = 0.551, FVC p = 0.362, DLco p = 0.620 and 10 years of follow-up HRCT changes p = 0.853, FEV1 p = 0.589, FVC p = 0.328, DLco p = 0.992). However, patients with the ID genotype showed a significant reduction in FEV1 after 10 years of follow-up in comparison to baseline levels (91.0 (IR 80.0–105.0) at the time of diagnosis and 84.0 (IR 69.0–99.0) after 10 years, p = 0.014). Our study suggests that ACE 1 gene polymorphisms do not have a role in the severity of SSc-ILD. Further studies are needed to explain the exact role of ACE 1 gene polymorphisms in SSc-ILD and SSc in general.

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Fig. 1

Data availability

Original data is available and may be provided on request.

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Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

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Authors and Affiliations

  1. Division of Clinical Immunology and Rheumatology, Department of Internal Medicine, University of Zagreb, School of Medicine, University Hospital Center Zagreb, Zagreb, Croatia

    Boris Karanović, Marko Barešić & Branimir Anić

  2. Division of Molecular Laboratory Diagnostics, Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia

    Ana Merkler Šorgić

Authors
  1. Boris Karanović
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  2. Marko Barešić
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  3. Ana Merkler Šorgić
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  4. Branimir Anić
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Contributions

BA was responsible for the idea, the concept and the critical review. BK was in charge of the design, data collection, analysis/interpretation and writing of the article. AMŠ processed and analysed the data. MB performed literature and references review and gave a critical review.

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Correspondence to Boris Karanović.

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We declare that this manuscript is original, has not been published before, and is not currently being considered for publication elsewhere. We have no conflicts of interest associated with this publication, and there has been no financial support for this work that could have influenced its outcome. As the corresponding author, I confirm that the manuscript has been read and approved for submission by all named authors with subsequent modifications. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

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Informed consents were obtained from the patients included in the study.

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Karanović, B., Barešić, M., Merkler Šorgić, A. et al. Angiotensin-converting enzyme 1 gene polymorphisms in patients with systemic sclerosis-associated interstitial lung disease: a single centre retrospective observational study. Rheumatol Int 43, 2303–2309 (2023). https://doi.org/10.1007/s00296-023-05462-8

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  • DOI: https://doi.org/10.1007/s00296-023-05462-8

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