Genetic Associations with Pectus Excavatum: A Systematic Review.

ABSTRACT:

Background

Pectus excavatum (PE) is the most common congenital chest wall deformity, affecting approximately 1 in 400 live births. Although familial clustering supports a genetic contribution, the molecular basis of PE remains poorly defined. This systematic review synthesizes existing evidence on genetic variants associated with PE to guide future genome-wide association studies (GWAS) and Mendelian randomization (MR) analyses.

Methods

A comprehensive systematic search was conducted across all electronic databases, including Google Scholar, PubMed/MEDLINE, Web of Science, and arXiv, from inception to November 2025. Nine studies met the inclusion criteria. The search strategy utilized the terms "pectus excavatum", "genetic variants", "SNPs", and "GWAS", combined with Boolean

SUBMITTER: Ranjan R 

PROVIDER: S-EPMC12839692 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature