Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis.

ABSTRACT:

Rationale

Sequence variation, methylation differences, and transcriptional changes in desmoplakin (DSP) have been observed in patients with idiopathic pulmonary fibrosis (IPF).

Objectives

To identify novel variants in DSP associated with IPF and to characterize the relationship of these IPF sequence variants with DSP gene expression in human lung.

Methods

A chromosome 6 locus (7,370,061-7,606,946) was sequenced in 230 subjects with IPF and 228 control subjects. Validation genotyping of disease-associated variants was conducted in 936 subjects with IPF and 936 control subjects. DSP gene expression was measured in lung tissue from 334 subjects with IPF and 201 control subjects.

Measurements and main results

We identified 23 sequence variants in the chromosome 6 l

SUBMITTER: Mathai SK 

PROVIDER: S-EPMC4872666 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature