[Research Progress on Bioinformatics in Pulmonary Arterial Hypertension]

Overview

Journal Zhongguo Dang Dai Er Ke Za Zhi

Specialty Pediatrics

Date 2024 Apr 25

PMID 38660909

Authors

Wei Peng

Ze-Ying Zhang

Yun-Bin Xiao

Affiliations

Soon will be listed here.

Abstract

Pulmonary arterial hypertension (PAH) is a severe disease characterized by abnormal pulmonary vascular remodeling and increased right ventricular pressure load, posing a significant threat to patient health. While some pathological mechanisms of PAH have been revealed, the deeper mechanisms of pathogenesis remain to be elucidated. In recent years, bioinformatics has provided a powerful tool for a deeper understanding of the complex mechanisms of PAH through the integration of techniques such as multi-omics analysis, artificial intelligence, and Mendelian randomization. This review focuses on the bioinformatics methods and technologies used in PAH research, summarizing their current applications in the study of disease mechanisms, diagnosis, and prognosis assessment. Additionally, it analyzes the existing challenges faced by bioinformatics and its potential applications in the clinical and basic research fields of PAH in the future.

References

Eichstaedt C, Sassmannshausen Z, Shaukat M, Cao D, Xanthouli P, Gall H . Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension. Respir Res. 2022; 23(1):74. PMC: 8962083. DOI: 10.1186/s12931-022-01987-x. View

Welch C, Chung W . Channelopathy Genes in Pulmonary Arterial Hypertension. Biomolecules. 2022; 12(2). PMC: 8961593. DOI: 10.3390/biom12020265. View

Liu M, Liu Q, Pei Y, Gong M, Cui X, Pan J . Aqp-1 Gene Knockout Attenuates Hypoxic Pulmonary Hypertension of Mice. Arterioscler Thromb Vasc Biol. 2018; 39(1):48-62. DOI: 10.1161/ATVBAHA.118.311714. View

Swietlik E, Greene D, Zhu N, Megy K, Cogliano M, Rajaram S . Bayesian Inference Associates Rare Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circ Genom Precis Med. 2020; . PMC: 7892262. DOI: 10.1161/CIRCGEN.120.003155. View

Hafeez N, Kirillova A, Yue Y, Rao R, Kelly N, El Khoury W . Single Nucleotide Polymorphism rs9277336 Controls the Nuclear Alpha Actinin 4-Human Leukocyte Antigen-DPA1 Axis and Pulmonary Endothelial Pathophenotypes in Pulmonary Arterial Hypertension. J Am Heart Assoc. 2023; 12(7):e027894. PMC: 10122886. DOI: 10.1161/JAHA.122.027894. View

Thomeas-McEwing V, Psotka M, Gamazon E, Friedman P, Konkashbaev A, Kubo M . Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension. Pharmacogenet Genomics. 2022; 32(4):144-151. DOI: 10.1097/FPC.0000000000000463. View

Zhang G, Zhou Y . Artificial Intelligence and Machine Learning in Clinical Medicine. N Engl J Med. 2023; 388(25):2397-2398. DOI: 10.1056/NEJMc2305287. View

Liu C, Shih E, Chen J, Huang C, Wu I, Chen P . Artificial Intelligence-Enabled Electrocardiogram Improves the Diagnosis and Prediction of Mortality in Patients With Pulmonary Hypertension. JACC Asia. 2022; 2(3):258-270. PMC: 9627911. DOI: 10.1016/j.jacasi.2022.02.008. View

Ramirez J, van Duijvenboden S, Aung N, Laguna P, Pueyo E, Tinker A . Cardiovascular Predictive Value and Genetic Basis of Ventricular Repolarization Dynamics. Circ Arrhythm Electrophysiol. 2019; 12(10):e007549. DOI: 10.1161/CIRCEP.119.007549. View

10.

Austin E, Elliott C . TBX4 syndrome: a systemic disease highlighted by pulmonary arterial hypertension in its most severe form. Eur Respir J. 2020; 55(5). DOI: 10.1183/13993003.00585-2020. View

11.

Rhodes C, Batai K, Bleda M, Haimel M, Southgate L, Germain M . Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. Lancet Respir Med. 2018; 7(3):227-238. PMC: 6391516. DOI: 10.1016/S2213-2600(18)30409-0. View

12.

Niu Z, Fu M, Li Y, Ren H, Zhang X, Yao L . Osthole alleviates pulmonary vascular remodeling by modulating microRNA-22-3p mediated lipid metabolic reprogramming. Phytomedicine. 2021; 96:153840. DOI: 10.1016/j.phymed.2021.153840. View

13.

Zhu N, Swietlik E, Welch C, Pauciulo M, Hagen J, Zhou X . Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med. 2021; 13(1):80. PMC: 8112021. DOI: 10.1186/s13073-021-00891-1. View

14.

Ma H, Ye P, Zhang A, Yu W, Lin S, Zheng Y . Upregulation of miR-335-5p Contributes to Right Ventricular Remodeling via Calumenin in Pulmonary Arterial Hypertension. Biomed Res Int. 2022; 2022:9294148. PMC: 9557250. DOI: 10.1155/2022/9294148. View

15.

Greener J, Kandathil S, Moffat L, Jones D . A guide to machine learning for biologists. Nat Rev Mol Cell Biol. 2021; 23(1):40-55. DOI: 10.1038/s41580-021-00407-0. View

16.

Pu A, Ramani G, Chen Y, Perry J, Hong C . Identification of novel genetic variants, including PIM1 and LINC01491, with ICD-10 based diagnosis of pulmonary arterial hypertension in the UK Biobank cohort. Front Drug Discov (Lausanne). 2023; 3. PMC: 10121214. DOI: 10.3389/fddsv.2023.1127736. View

17.

Klimontov V, Koshechkin K, Orlova N, Sekacheva M, Orlov Y . Medical Genetics, Genomics and Bioinformatics-2022. Int J Mol Sci. 2023; 24(10). PMC: 10219379. DOI: 10.3390/ijms24108968. View

18.

Prohaska C, Zhang X, Schwantes-An T, Stearman R, Hooker S, Kittles R . is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension. Pulm Circ. 2023; 13(2):e12227. PMC: 10124178. DOI: 10.1002/pul2.12227. View

19.

Hodgson J, Swietlik E, Salmon R, Hadinnapola C, Nikolic I, Wharton J . Characterization of Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. Am J Respir Crit Care Med. 2019; 201(5):575-585. PMC: 7047445. DOI: 10.1164/rccm.201906-1141OC. View

20.

Hemnes A, Luther J, Rhodes C, Burgess J, Carlson J, Fan R . Human PAH is characterized by a pattern of lipid-related insulin resistance. JCI Insight. 2019; 4(1). PMC: 6485674. DOI: 10.1172/jci.insight.123611. View