GENETIC FACTORS IN THE DEVELOPMENT OF PULMONARY SYNDROME (COR PULMONALE)
DOI:
https://doi.org/10.55640/Keywords:
Keywords: Pulmonary heart disease, cor pulmonale, genetic factors, pulmonary hypertension, chronic obstructive pulmonary disease, BMPR2, genetic predispositionAbstract
Abstract. This study evaluates the profound role of genetic susceptibility in the pathogenesis and progression of pulmonary heart disease, clinically identified as cor pulmonale. Traditional paradigms have heavily emphasized environmental and acquired factors, yet contemporary molecular evidence demonstrates a strong genetic basis underlying individual variations in disease severity. This article provides a comprehensive analysis of genetic predispositions in conditions associated with chronic obstructive pulmonary disease and pulmonary arterial hypertension. Particular emphasis is placed on the regulatory functions of SERPINA1, the angiotensin-converting enzyme gene, interleukin-6, and the serotonin transporter gene. Furthermore, the transforming growth factor-beta and bone morphogenetic protein signaling pathways are extensively reviewed, with a focus on the BMPR2 gene. Through a synthesis of recent clinical and molecular genetic data, the critical importance of gene-environment interactions in the complex pathogenesis of cor pulmonale is delineated.
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References
1.Shujaat, A., Minkin, R., & Eden, E. (2007). Pulmonary hypertension and chronic cor pulmonale in COPD. International Journal of Chronic Obstructive Pulmonary Disease, 2(3), 273-282.
2.Shujaat, A., Bajwa, A. A., & Cury, J. D. (2012). Pulmonary hypertension secondary to COPD. Pulmonary Medicine, 2012, 203952.
3.[3] Eddahibi, S., Chaouat, A., Tu, L., et al. (2006). Interleukin-6 gene polymorphism confers susceptibility to pulmonary hypertension in chronic obstructive pulmonary disease. Proceedings of the American Thoracic Society, 3(6), 475-476.
4.Chaouat, A., Naeije, R., & Weitzenblum, E. (2008). Pulmonary hypertension in COPD. European Respiratory Journal, 32(5), 1371-1385.
5.Aldashev, A. A., Sarybaev, A. S., Sydykov, A. S., et al. (2002). Characterization of high-altitude pulmonary hypertension in the Kyrgyz - association with angiotensin-converting enzyme genotype. American Journal of Respiratory and Critical Care Medicine, 166(10), 1396-1402.
6.Lomas, D. A., & Silverman, E. K. (2001). The genetics of chronic obstructive pulmonary disease. Respiratory Research, 2(1), 20-26.
7.Cho, M. H., Hobbs, B. D., Silverman, E. K., et al. (2022). Genetics of chronic obstructive pulmonary disease - understanding the pathobiology and heterogeneity of a complex disorder. The Lancet Respiratory Medicine, 10(5), 485-496.
8.Evans, J. D. W., Girerd, B., Montani, D., et al. (2016). BMPR2 mutations and survival in pulmonary arterial hypertension - an individual participant data meta-analysis. The Lancet Respiratory Medicine, 4(2), 129-137.
9.Aldred, M. A., Morrell, N.W., & Guignabert, C. (2022). New mutations and pathogenesis of pulmonary hypertension - progress and puzzles in disease pathogenesis. Circulation Research, 130(9), 1365-1381.
10.Sotcan, M. A., Vladeanu, A. M., & Tudorache, V. (2006). Alpha-1 antitrypsin deficiency and chronic cor pulmonale. Pneumologia, 55(4), 183-186.
11.Newman, J. H., Trembath, R. C., Morse, J. A., et al. (2004). Genetic basis of pulmonary arterial hypertension - current understanding and future directions. Journal of the American College of Cardiology, 43(12), 33S-39S.
12.Humbert, M., & Trembath, R. C. (2002). Genetics of primary pulmonary hypertension. Clinics in Chest Medicine, 23(4), 741-749.
13.Morrell, N. W., Aldred, M. A., Chung, W. K., et al. (2019). Genetics and genomics of pulmonary arterial hypertension. European Respiratory Journal, 53(1), 1801899.
14.Austin, E. D., & Loyd, J. E. (2014). The genetics of pulmonary arterial hypertension. Circulation Research, 115(1), 189-202.
15.Southgate, L., Machado, R. D., Gräf, S., & Morrell, N. W. (2020). Molecular genetic framework underlying pulmonary arterial hypertension. Nature Reviews Cardiology, 17(2), 85-95.
16.Garcia-Rivas, G., Jerjes-Sánchez, C., Rodriguez, D., et al. (2017). A systematic review of genetic mutations in pulmonary arterial hypertension. BMC Medical Genetics, 18(1), 82.
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