Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth.

ABSTRACT:

Background

Previous studies have identified genetic variants associated with bronchopulmonary dysplasia (BPD) in extremely preterm infants. However, findings with genome-wide significance have been rare, and not replicated. We hypothesized that whole exome sequencing (WES) of premature subjects with extremely divergent phenotypic outcomes could facilitate the identification of genetic variants or gene networks contributing disease risk.

Results

The Prematurity and Respiratory Outcomes Program (PROP) recruited a cohort of > 765 extremely preterm infants for the identification of markers of respiratory morbidity. We completed WES on 146 PROP subjects (85 affected, 61 unaffected) representing extreme phenotypes of early respiratory morbidity. We tested for association between d

SUBMITTER: Hamvas A 

PROVIDER: S-EPMC6195962 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature