Oct 17, 2015

Genetic predisposition to bronchopulmonary dysplasia

Seminars in Perinatology
Charitharth Vivek Lal, Namasivayam Ambalavanan

Abstract

The objective of this study is to review the candidate gene and genome-wide association studies relevant to bronchopulmonary dysplasia, and to discuss the emerging understanding of the complexities involved in genetic predisposition to bronchopulmonary dysplasia and its outcomes. Genetic factors contribute much of the variance in risk for BPD. Studies to date evaluating single or a few candidate genes have not been successful in yielding results that are replicated in GWAS, perhaps due to more stringent p-value thresholds. GWAS studies have identified only a single gene (SPOCK2) at genome-wide significance in a European White and African cohort, which was not replicated in two North American studies. Pathway gene-set analysis in a North American cohort confirmed involvement of known pathways of lung development and repair (e.g., CD44 and phosphorus oxygen lyase activity) and indicated novel molecules and pathways (e.g., adenosine deaminase and targets of miR-219) involved in genetic predisposition to BPD. The genetic basis of severe BPD is different from that of mild/moderate BPD, and the variants/pathways associated with BPD vary by race/ethnicity. A pilot study of whole exome sequencing identified hundreds of genes of interes...Continue Reading

  • References56
  • Citations7

References

  • References56
  • Citations7

Mentioned in this Paper

Genome-Wide Association Study
NQO1 gene
Study
DRUG Screen Quant Caffeine
Pathogenic Aspects
Biochemical Pathway
SPOCK2
Morbidity Aspects
SFTPD gene
Pathogenesis

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