The genetic predisposition to bronchopulmonary dysplasia
| Autor: | Kun-Hsing Yu, Gary M. Shaw, Michael Snyder, Hugh O'Brodovich, Jingjing Li |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
DNA Copy Number Variations Genome-wide association study Disease Bioinformatics behavioral disciplines and activities Polymorphism Single Nucleotide Article 03 medical and health sciences 0302 clinical medicine 030225 pediatrics mental disorders medicine Genetic predisposition Twins Dizygotic Humans Infant Very Low Birth Weight Genetic Predisposition to Disease Prospective Studies Bronchopulmonary Dysplasia business.industry Infant Newborn Genetic Variation Twins Monozygotic Heritability medicine.disease Twin study Twin Studies as Topic 030104 developmental biology Bronchopulmonary dysplasia Dysplasia Pediatrics Perinatology and Child Health business Infant Premature Genome-Wide Association Study |
| Zdroj: | Current opinion in pediatrics. 28(3) |
| ISSN: | 1531-698X |
| Popis: | Bronchopulmonary dysplasia (BPD) is a prevalent chronic lung disease in premature infants. Twin studies have shown strong heritability underlying this disease; however, the genetic architecture of BPD remains unclear.A number of studies employed different approaches to characterize the genetic aberrations associated with BPD, including candidate gene studies, genome-wide association studies, exome sequencing, integrative omics analysis, and pathway analysis. Candidate gene studies identified a number of genes potentially involved with the development of BPD, but the etiological contribution from each gene is not substantial. Copy number variation studies and three independent genome-wide association studies did not identify genetic variations significantly and consistently associated with BPD. A recent exome-sequencing study pointed to rare variants implicated in the disease. In this review, we summarize these studies' methodology and findings, and suggest future research directions to better understand the genetic underpinnings of this potentially life-long lung disease.Genetic factors play a significant role in the development of BPD. Recent studies suggested that rare variants in genes participating in lung development pathways could contribute to BPD susceptibility. |
| Databáze: | OpenAIRE |
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