ArticlePloS one2017
Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Autism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample.Biological psychiatry global open science · 2026Article
- The genetic architecture of cervical length is shared with spontaneous preterm birth risk.Communications medicine · 2025Article
- A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.Genetics, selection, evolution : GSE · 2024Article
- Review
- The Role of Genetics in Preterm Birth.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Genetics, epigenetics, and transcriptomics of preterm birth.American journal of reproductive immunology (New York, N.Y. : 1989) · 2022Review
- Study protocol to quantify the genetic architecture of sonographic cervical length and its relationship to spontaneous preterm birth.BMJ open · 2022Article
- Recent advances in the genetics of preterm birth.Annals of human genetics · 2020Review
- Functional Genomics of Healthy and Pathological Fetal Membranes.Frontiers in physiology · 2020Review
- Spontaneous premature birth as a target of genomic research.Pediatric research · 2019Review
- Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.BMC medical genetics · 2018Article
- Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.PLoS genetics · 2018Article
- Spontaneous preterm birth: advances toward the discovery of genetic predisposition.American journal of obstetrics and gynecology · 2018Review
- Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM).Molecular genetics & genomic medicine · 2017Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm birth with ~ 40% of preterm births being associated with PPROM and occurs in 1% - 2% of all pregnancies. We hypothesized that multiple rare variants in fetal genes involved in extracellular matrix synthesis would associate with PPROM, based on the assumption that impaired elaboration of matrix proteins would reduce fetal membrane tensile strength, predisposing to unscheduled rupture. We performed whole exome sequencing (WES) on neonatal DNA derived from pregnancies complicated by PPROM (49 cases) and healthy term deliveries (20 controls) to identify candidate mutations/variants. Genotyping for selected variants from the WES study was carried out on an additional 188 PPROM cases and 175 controls. All mothers were self-reported African Americans, and a panel of ancestry informative markers was used to control for genetic ancestry in all genetic association tests. In support of the primary hypothesis, a statistically significant genetic burden (all samples combined, SKAT-O p-value = 0.0225) of damaging/potentially damaging rare variants was identified in the genes of interest-fibrillar collagen genes, which contribute to fetal membrane strength and integrity. These findings suggest that the fetal contribution to PPROM is polygenic, and driven by an increased burden of rare variants that may also contribute to the disparities in rates of preterm birth among African Americans.
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