A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth.

ABSTRACT:

Background

Preterm birth (PTB), defined as delivery before 37 gestational weeks, imposes significant public health burdens. A recent maternal genome-wide association study of spontaneous PTB identified a noncoding locus near the angiotensin II receptor type 2 (AGTR2) gene. Genotype-Tissue Expression data revealed that alleles associated with decreased AGTR2 expression in the uterus were linked to an increased risk of PTB and shortened gestational duration. We hypothesized that a causative variant in this locus modifies AGTR2 expression by altering transcription factor (TF) binding.

Methods

To investigate this hypothesis, we performed bioinformatics analyses and functional characterizations at the implicated locus. Potential causal single nucleotide polymorphisms (SNPs) were

SUBMITTER: Wang L 

PROVIDER: S-EPMC10351137 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature