ArticleMolecular genetics & genomic medicine2017
Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM).
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 44 citations in OpenAlex.
- MOCHA's advanced statistical modeling of scATAC-seq data enables functional genomic inference in large human cohorts.Nature communications · 2024Article
- Article
- Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes.BMC medical genomics · 2024Article
- Article
- Collectins and ficolins in neonatal health and disease.Frontiers in immunology · 2023Review
- Association of theInternational journal of molecular sciences · 2022Article
- 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
- The Vaginal Microbiota Composition and Genital Infections during and after Pregnancy among Women in Pemba Island, Tanzania.Microorganisms · 2022Article
- Pathophysiological Implication of Pattern Recognition Receptors in Fetal Membranes Rupture: RAGE and NLRP Inflammasome.Biomedicines · 2021Review
- The Role of Antimicrobial Peptides in Preterm Birth.International journal of molecular sciences · 2021Review
- Cesarean section and pregnancy outcomes of preterm premature rupture of membranes under different fertility policies in China.Translational pediatrics · 2021Article
- Antibiotic administration reduces the rate of intraamniotic inflammation in preterm prelabor rupture of the membranes.American journal of obstetrics and gynecology · 2020Article
- Recent advances in the genetics of preterm birth.Annals of human genetics · 2020Review
- Cell-Free Fetal DNA Increases Prior to Labor at Term and in a Subset of Preterm Births.Reproductive sciences (Thousand Oaks, Calif.) · 2020Article
- Diminished Systemic and Mycobacterial Antigen Specific Anti-microbial Peptide Responses in Low Body Mass Index-Latent Tuberculosis Co-morbidity.Frontiers in cellular and infection microbiology · 2020Article
- Human Amnion Epithelial Cells (AECs) Respond to the FSL-1 Lipopeptide by Engaging the NLRP7 Inflammasome.Frontiers in immunology · 2020Article
- A Genome-Wide Analysis of Clinical Chorioamnionitis among Preterm Infants.American journal of perinatology · 2019Article
- The earlier the gestational age, the greater the intensity of the intra-amniotic inflammatory response in women with preterm premature rupture of membranes and amniotic fluid infection by Ureaplasma species.Journal of perinatal medicine · 2019Article
- Intra-amniotic inflammation induces preterm birth by activating the NLRP3 inflammasome†.Biology of reproduction · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundTwin studies have revealed a significant contribution of the fetal genome to risk of preterm birth. Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm delivery. Infection and inflammation of the fetal membranes is commonly found associated with PPROM.
methodsWe carried out whole exome sequencing (WES) of genomic DNA from neonates born of African-American mothers whose pregnancies were complicated by PPROM (76) or were normal term pregnancies (N = 43) to identify mutations in 35 candidate genes involved in innate immunity and host defenses against microbes. Targeted genotyping of mutations in the candidates discovered by WES was conducted on an additional 188 PPROM cases and 175 controls.
resultsWe identified rare heterozygous nonsense and frameshift mutations in several of the candidate genes, including CARD6, CARD8, DEFB1, FUT2, MBL2, NLP10, NLRP12, and NOD2. We discovered that some mutations (CARD6, DEFB1, FUT2, MBL2, NLRP10, NOD2) were present only in PPROM cases.
conclusionsWe conclude that rare damaging mutations in innate immunity and host defense genes, the majority being heterozygous, are more frequent in neonates born of pregnancies complicated by PPROM. These findings suggest that the risk of preterm birth in African-Americans may be conferred by mutations in multiple genes encoding proteins involved in dampening the innate immune response or protecting the host against microbial infection and microbial products.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.