<i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder associated with an increased risk of pulmonary disease. Its clinical presentation, including the nature and severity of organ involvement, is highly variable and unpredictable and is not as strongly linked to genotype and environme...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/5/1708 |
| _version_ | 1797615130229342208 |
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| author | Aleksandra Jezela-Stanek Joanna Chorostowska-Wynimko |
| author_facet | Aleksandra Jezela-Stanek Joanna Chorostowska-Wynimko |
| author_sort | Aleksandra Jezela-Stanek |
| collection | DOAJ |
| description | Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder associated with an increased risk of pulmonary disease. Its clinical presentation, including the nature and severity of organ involvement, is highly variable and unpredictable and is not as strongly linked to genotype and environmental exposure (e.g., smoking history) as might be expected. Significant differences were observed within matched populations of severe AATD patients regarding risk of complications, age at onset, and disease course, including the dynamics of lung function decline. Genetic factors are among the putative modifiers contributing to the clinical variability in AATD, yet their role remains elusive. Here, we review and summarise our current understanding of epigenetic and genetic modifiers of pulmonary dysfunction in subjects with AATD. |
| first_indexed | 2024-03-11T07:22:08Z |
| format | Article |
| id | doaj.art-fed42492bda5406798185d3add11c7b2 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T07:22:08Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-fed42492bda5406798185d3add11c7b22023-11-17T07:57:17ZengMDPI AGJournal of Clinical Medicine2077-03832023-02-01125170810.3390/jcm12051708<i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin DeficiencyAleksandra Jezela-Stanek0Joanna Chorostowska-Wynimko1Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, PolandDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, PolandAlpha-1 antitrypsin deficiency (AATD) is a common inherited disorder associated with an increased risk of pulmonary disease. Its clinical presentation, including the nature and severity of organ involvement, is highly variable and unpredictable and is not as strongly linked to genotype and environmental exposure (e.g., smoking history) as might be expected. Significant differences were observed within matched populations of severe AATD patients regarding risk of complications, age at onset, and disease course, including the dynamics of lung function decline. Genetic factors are among the putative modifiers contributing to the clinical variability in AATD, yet their role remains elusive. Here, we review and summarise our current understanding of epigenetic and genetic modifiers of pulmonary dysfunction in subjects with AATD.https://www.mdpi.com/2077-0383/12/5/1708AATDmRNAmethylationSNPmicro-RNA<i>SERPINA1</i> gene |
| spellingShingle | Aleksandra Jezela-Stanek Joanna Chorostowska-Wynimko <i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency Journal of Clinical Medicine AATD mRNA methylation SNP micro-RNA <i>SERPINA1</i> gene |
| title | <i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency |
| title_full | <i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency |
| title_fullStr | <i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency |
| title_full_unstemmed | <i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency |
| title_short | <i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency |
| title_sort | i serpina1 i and more a putative genetic contributor to pulmonary dysfunction in alpha 1 antitrypsin deficiency |
| topic | AATD mRNA methylation SNP micro-RNA <i>SERPINA1</i> gene |
| url | https://www.mdpi.com/2077-0383/12/5/1708 |
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