Asociación entre el gen SERPINA1 y la susceptibilidad al desarrollo de EPOC
Resumen
La enfermedad pulmonar obstructiva crónica (EPOC) representa una de las principales causas de morbimortalidad en el mundo y, aunque el tabaquismo es ampliamente reconocido como su principal factor de riesgo, no todos los fumadores desarrollan la enfermedad, lo que sugiere la existencia de elementos genéticos moduladores de la susceptibilidad individual. En este contexto, el gen SERPINA1 ha emergido como uno de los determinantes más relevantes en la patogénesis de la EPOC, particularmente por su papel en la codificación de la alfa-1 antitripsina (AAT), una proteína inhibidora de la elastasa de neutrófilos.
Citas
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https://pubmed.ncbi.nlm.nih.gov/26480348
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6. Karadoğan D, Dreger B, Osaba L, Ahmetoğlu E, Özyurt S, Yılmaz Kara B, et al. Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye. BMC Pulm Med [Internet]. 2024 Dec 1 [cited 2025 May 21];24(1). Available from: https://pubmed.ncbi.nlm.nih.gov/39696116/
7. Ortega VE, Li X, O’Neal WK, Lackey L, Ampleford E, Hawkins GA, et al. The effects of rare SERPINA1 variants on lung function and emphysema in SPIROMICS. Am J Respir Crit Care Med [Internet]. 2020 Mar 1 [cited 2025 May
21];201(5):540–54. Available from: https://www.atsjournals.org/doi/pdf/10.1164/rccm.201904-0769OC?download=true
8. Sangeetha T, Nargis Begum T, Balamuralikrishnan B, Arun M, Rengasamy KRR, Senthilkumar N, et al. Influence of SERPINA1 gene polymorphisms on anemia and chronic obstructive pulmonary disease. J Renin Angiotensin Aldosterone Syst [Internet]. 2022;2022:2238320. Disponible en: http://dx.doi.org/10.1155/2022/2238320
9. Zhang LY, Sun XW, Ding YJ, Yan YR, Wang Y, Li CX, et al. SERPINA1 methylation levels are associated with lung cancer development in male patients with chronic obstructive pulmonary disease. Int J Chron Obstruct
Pulmon Dis [Internet]. 2022;17:2117–25. Disponible en: http://dx.doi.org/10.2147/COPD.S368543
https://pubmed.ncbi.nlm.nih.gov/26480348
2. Lackey L, Coria A, Ghosh AJ, Grayeski P, Hatfield A, Shankar V, et al. Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease. PLoS Genet [Internet]. 2021 [cited 2025 May
21];17(11): e1009912. Available from: https://pubmed.ncbi.nlm.nih.gov/34784346
3. Rotondo JCh, Aquila G, Oton-Gonzalez L, Selvatici R, Rizzo P, De Mattei M, et al. Methylation of SERPINA1 gene promoter may predict chronic obstructive pulmonary disease in patients affected by acute coronary syndrome. Clin Epigenetics [Internet]. 2021 [cited 2025 May 21];13(1) :79. Available from: https://pubmed.ncbi.nlm.nih.gov/33858475
4. Thun GA, Imboden M, Ferrarotti I, Kumar A, Obeidat M, Zorzetto M, et al. Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels. PLoS Genet [Internet]. 2013 [cited
2025 May 21];9(8): e1003585. Available from: https://pubmed.ncbi.nlm.nih.gov/23990791
5. Bashir A, Shah NN, Hazari YM, Habib M, Bashir S, Hilal N, et al. Novel variants
of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease. Respir Med [Internet]. 2016 [cited 2025 May 21]; 117:139–49. Available from: https://pubmed.ncbi.nlm.nih.gov/27492524
6. Karadoğan D, Dreger B, Osaba L, Ahmetoğlu E, Özyurt S, Yılmaz Kara B, et al. Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye. BMC Pulm Med [Internet]. 2024 Dec 1 [cited 2025 May 21];24(1). Available from: https://pubmed.ncbi.nlm.nih.gov/39696116/
7. Ortega VE, Li X, O’Neal WK, Lackey L, Ampleford E, Hawkins GA, et al. The effects of rare SERPINA1 variants on lung function and emphysema in SPIROMICS. Am J Respir Crit Care Med [Internet]. 2020 Mar 1 [cited 2025 May
21];201(5):540–54. Available from: https://www.atsjournals.org/doi/pdf/10.1164/rccm.201904-0769OC?download=true
8. Sangeetha T, Nargis Begum T, Balamuralikrishnan B, Arun M, Rengasamy KRR, Senthilkumar N, et al. Influence of SERPINA1 gene polymorphisms on anemia and chronic obstructive pulmonary disease. J Renin Angiotensin Aldosterone Syst [Internet]. 2022;2022:2238320. Disponible en: http://dx.doi.org/10.1155/2022/2238320
9. Zhang LY, Sun XW, Ding YJ, Yan YR, Wang Y, Li CX, et al. SERPINA1 methylation levels are associated with lung cancer development in male patients with chronic obstructive pulmonary disease. Int J Chron Obstruct
Pulmon Dis [Internet]. 2022;17:2117–25. Disponible en: http://dx.doi.org/10.2147/COPD.S368543
