Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Zhu, Na; Swietlik, Emilia M.; Welch, Carrie L.; Pauciulo, Michael W.; Hagen, Jacob; Zhou, Xueya; Guo, Yicheng; Karten, Johannes; Pandya, Divya; Tilly, Tobias; Lutz, Katie A.; Martin, Jennifer; Treacy, Carmen; Rosenzweig, Erika B.; Krishnan, Usha; Coleman, Alan; Gonzaga‐Jauregui, Claudia; Lawrie, Allan; Trembath, Richard; Wilkins, Martin R.; Morrell, Nicholas W.; Shen, Yufeng; Gräf, Stefan; Nichols, William C.; Chung, Wendy K.

doi:10.1186/s13073-021-00915-w

Cited by 14 publications

(11 citation statements)

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“…Rare heterozygous loss-of-function missense mutations in KDR have now been reported in diverse cohorts of individuals with PAH, including 2 kindreds in which PAH is accompanied by parenchymal abnormalities and severely decreased diffusion capacity of the lungs for carbon monoxide (D lco ) suggestive of interstitial lung disease or emphysema. 17–19 The susceptibility of KDR-deficient individuals to a congenital PAH syndrome supports a protective role of this receptor in the pulmonary microcirculation, consistent with the findings of this study.…”

supporting

confidence: 87%

Angiogenesis Redux: An Overall Protective Role of VEGF/KDR Signaling in the Microvasculature in Pulmonary Arterial Hypertension

Zhong,

2023

ATVB

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supporting

confidence: 87%

Angiogenesis Redux: An Overall Protective Role of VEGF/KDR Signaling in the Microvasculature in Pulmonary Arterial Hypertension

Zhong,

2023

ATVB

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“…For single nucleotide variants (SNV), the sequencing raw data was processed by DRAGEN platform (SW: 05.021.595.3.7.5) (Illumina Inc., USA). All obtained variants from Variant Call Format (VCF) file were further filtered by a panel of PAH-related genes including 16 WSPH-listed [ BMPR2, KCNK3, EIF2AK4, KLF2, ACVRL1, SMAD1, AQP1, SMAD4, ATP13A3, SMAD9, TBX4, SOX17, CAV1, KCNA5, BMPR1B, GDF2 ( 23 ) and ENG ] ( 2 ) and 14 non-WSPH-listed genes [ ABCA3 ( 18 , 24 ) , NOTCH1 ( 25 , 26 ) , NOTCH2 ( 27 , 28 ) , NOTCH3 ( 15 , 29 ) , ABCC8 ( 11 , 12 ) , BMP10 ( 30 , 31 ) , FBLN2 ( 32 ) , JAG1 ( 33 ) , PTGIS ( 34 ) , PDGFD ( 32 ) , GGCX ( 35 ) , SMAD5 ( 36 , 37 ) , KLK1 ( 35 ) and TopBP1 ( 26 , 38 )]. Those variants with read depth <30x were filtered out.…”

Section: Methodsmentioning

confidence: 99%

Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan

Liang

Chang

Chen

et al. 2022

Front. Cardiovasc. Med.

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BackgroundGenetic variants could be identified in subjects with idiopathic and heritable pulmonary arterial hypertension (PAH). The 6th World Symposium on Pulmonary Hypertension (WSPH) provided a list of genes with evidence of association with PAH. However, reports using whole exome sequencing (WES) from southeastern Asian PAH cohorts were scarce.MethodsSubjects with idiopathic and heritable PAH (N = 45) from two medical centers in central Taiwan were screened for PAH related gene variants. The genomic DNA was prepared from peripheral blood lymphocytes. We performed WES for all patients enrolled in this study. All identified gene variants were validated by polymerase-chain reaction and Sanger sequencing. The clinical and hemodynamic data were compared between bone morphogenetic protein receptor type-2 (BMPR2) gene variants carriers vs. non-carriers.ResultsEight patients (8/45 = 17.8%) was identified carrying BMPR2 gene variants and 8 patients (8/45 = 17.8%) had other WSPH-listed PAH-related gene variants (1 with ACVRL1, 1 with ENG, 1 with SMAD9, 1 with SMAD1, 1 with ATP13A3 and 3 with AQP1). In addition, a total of 14 non-WSPH-listed PAH-related genetic variant sites (ABCC8, NOTCH1, NOTCH2, NOTCH3, JAG1, BMP10, GGCX, FBLN2, ABCA3 and PTGIS) were found in this PAH cohort. Subjects carrying BMPR2 gene variant (N = 8) were younger at diagnosis of PAH (30 ± 11 vs 49 ± 13 years, p = 0.001) than the non-carrier group (N = 37). BMPR2 variant carriers had a trend toward having higher mean pulmonary arterial pressure (PAP) (61 ± 19 vs. 51 ± 13 mmHg, p = 0.076) than the non-carriers upon initial diagnosis. Pulmonary vascular resistance, right atrial pressure, cardiac output, as well as functional class were similar between BMPR2 variant carriers and non-carriers at initial diagnosis.ConclusionsWe identified 17.8% of patients with BMPR2 gene variants and 17.8% subjects with other 6th WSPH-listed PAH-related gene variants in a Taiwanese idiopathic and heritable PAH cohort. PAH patients carrying BMPR2 variants presented at a younger age with a trend toward having higher mean PAP at initial diagnosis.

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“…9 A rare variant analysis of 4241 pulmonary arterial hypertension (PAH) cases with exome or genome sequencing data identified a few rare de novo variants in PAH. 10…”

Section: Bulk and Single-cell Omics Approachesmentioning

confidence: 99%

Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases

Wang

Maron

Loscalzo

2023

ATVB

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Cardiovascular diseases (CVD) are the leading cause of death worldwide and display complex phenotypic heterogeneity caused by many convergent processes, including interactions between genetic variation and environmental factors. Despite the identification of a large number of associated genes and genetic loci, the precise mechanisms by which these genes systematically influence the phenotypic heterogeneity of CVD are not well understood. In addition to DNA sequence, understanding the molecular mechanisms of CVD requires data from other omics levels, including the epigenome, the transcriptome, the proteome, as well as the metabolome. Recent advances in multiomics technologies have opened new precision medicine opportunities beyond genomics that can guide precise diagnosis and personalized treatment. At the same time, network medicine has emerged as an interdisciplinary field that integrates systems biology and network science to focus on the interactions among biological components in health and disease, providing an unbiased framework through which to integrate systematically these multiomics data. In this review, we briefly present such multiomics technologies, including bulk omics and single-cell omics technologies, and discuss how they can contribute to precision medicine. We then highlight network medicine-based integration of multiomics data for precision medicine and therapeutics in CVD. We also include a discussion of current challenges, potential limitations, and future directions in the study of CVD using multiomics network medicine approaches.

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Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Cited by 14 publications

References 1 publication

Angiogenesis Redux: An Overall Protective Role of VEGF/KDR Signaling in the Microvasculature in Pulmonary Arterial Hypertension

Angiogenesis Redux: An Overall Protective Role of VEGF/KDR Signaling in the Microvasculature in Pulmonary Arterial Hypertension

Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan

Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases

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