Genome-wide association studies of structural birth defects: A review and commentary.

ABSTRACT:

Background

While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few genome-wide association studies (GWAS) of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions.

Methods

This article reviews the literature with regard to GWAS of structural birth defects. Key defects included in this review include oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. Additionally, other issues related to GWAS are considered, including the assessment of polygenic risk scores and issues related to genetic ancestry,

SUBMITTER: Lupo PJ 

PROVIDER: S-EPMC7250002 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature