Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.

ABSTRACT: Preterm birth (PTB) is a major global public health concern. However, little is known about the pathophysiology of spontaneous idiopathic PTB. We tested the hypothesis that rare variants in families would target specific genes and pathways that contribute to PTB risk in the general population. Whole-exome sequencing was performed on 10 PTB mothers from densely affected families including two mother-daughter pairs. We identified novel variants shared between the two mother-daughter pairs when compared to a 1000 Genomes Project background exome file and investigated these genes for pathway aggregation using the Kyoto Encyclopedia of Genes and Genomes (KEGG). Genes in enriched pathways were then surveyed in the other six PTB exomes and tested for association in a larger number of nuclear fami

SUBMITTER: McElroy JJ 

PROVIDER: S-EPMC3868364 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature