Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.

ABSTRACT: Phenome-wide association studies (PheWAS) have been less focused on maternal diseases and maternal-newborn comorbidities, especially in the Chinese population. To enhance our understanding of the genetic basis of these related diseases, we conducted a PheWAS on 25,639 pregnant women and 14,151 newborns in the Chinese Han population using ultra-low-coverage whole-genome sequence (ulcWGS). We identified 2,883 maternal trait-associated SNPs associated with 26 phenotypes, among which 99.5% were near established genome-wide association study (GWAS) loci. Further refinement delineated these SNPs to 442 unique trait-associated loci (TALs) predicated on linkage disequilibrium R² > 0.8, revealing that 75.6% demonstrated pleiotropy and 50.9% were located in genes implicated in analogous p

SUBMITTER: Guo J 

PROVIDER: S-EPMC11602594 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature