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Article

Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways.

Physiological reviews - 1 Oct 2016

Evans Christopher M, Fingerlin Tasha E, Schwarz Marvin I, Lynch David, Kurche Jonathan, Warg Laura, Yang Ivana V, Schwartz David A

Abstract excerpt

Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of...

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Topics

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Share to RTEL1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27630174
DOI: 10.1152/physrev.00004.2016
PMCID: PMC5243224

Genes

PARN
RTEL1
SFTPA2
SFTPC
TERT

Provenance

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