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

doi:10.1186/s13073-021-00891-1

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

Genome medicine - 10 May 2021

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

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone...

Topics

Adolescent
Adult
Age of Onset
Aged
Alleles
Amino Acid Substitution
Biomarkers
Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Child, Preschool

Extracellular Matrix Proteins

Female

Genetic Predisposition to Disease

Genetic Variation

Genotype

Humans

Lymphokines

Male

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Identifiers

PMID: 33971972
DOI: 10.1186/s13073-021-00891-1
PMCID: PMC8112021

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