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NHLBI TOPMed: Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis

ABSTRACT: NHLBI TOPMed: Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis

PROVIDER: PRJNA472126 | ENA |

REPOSITORIES: ENA

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NHLBI TOPMed: Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis

Project description:NHLBI TOPMed: Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis

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Gene Expression Profiling of Familial and Sporadic Cases of Interstitial Pneumonia

Project description:Rationale: Idiopathic interstitial pneumonia (IIP) and its’ familial variants are progressive and largely untreatable disorders with poorly understood molecular mechanisms. Both the genetics and the histologic type of IIP play a role in understanding the etiology and pathogenesis of interstitial lung disease, but transcriptional signatures of these subtypes are unknown. Objectives: To evaluate gene expression in the lung tissue from patients with usual interstitial pneumonia (UIP) and non-specific interstitial pneumonia (NSIP) that were either familial or non-familial in origin and compare them to gene expression from normal lung parenchyma. Methods: We profiled RNA from lungs of 16 patients with sporadic IIP, 10 with familial IIP, and 9 normal controls on a whole human genome oligonucleotide microarray. Results: Significant transcriptional differences exist in familial and sporadic IIPs. The genes distinguishing the genetic subtypes belong to the same functional categories as transcripts that distinguish IIP from normal samples. Relevant categories include chemokines and growth factors and their receptors, complement components, genes associated with cell proliferation and death, and genes in the Wnt pathway. Keywords: disease state analysis

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NHLBI TOPMed: Partners HealthCare Biobank

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