ArticleHuman genetics2013
Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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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.
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Who cites it
28 citing papers in PubMed.
- Trial
- The Platelet Activation Signaling Pathway Regulated by Fibrinogen and Homo-Gamma-Linolenic Acid (C20:3)-Associated Lipid Metabolism Is Involved in the Maintenance of Early Pregnancy in Chinese Native Yellow Cattle.Animals : an open access journal from MDPI · 2025Article
- The Role of Genetics in Preterm Birth.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the Dengue disease severity.Scientific reports · 2023Article
- Genetics, epigenetics, and transcriptomics of preterm birth.American journal of reproductive immunology (New York, N.Y. : 1989) · 2022Review
- Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes.NPJ genomic medicine · 2021Review
- Recent advances in the genetics of preterm birth.Annals of human genetics · 2020Review
- Normal range of complement components during pregnancy: A prospective study.American journal of reproductive immunology (New York, N.Y. : 1989) · 2020Article
- Article
- Fetal lung C4BPA induces p100 processing in human placenta.Scientific reports · 2019Article
- Genomic and molecular characterization of preterm birth.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Spontaneous premature birth as a target of genomic research.Pediatric research · 2019Review
- Genetic studies of gestational duration and preterm birth.Best practice & research. Clinical obstetrics & gynaecology · 2018Review
- Spontaneous preterm birth: advances toward the discovery of genetic predisposition.American journal of obstetrics and gynecology · 2018Review
- Human complement receptor type 1 (CR1) protein levels and genetic variants in chronic Chagas Disease.Scientific reports · 2018Article
- A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth.Scientific reports · 2018Article
- Article
- Geographical distribution of complement receptor type 1 variants and their associated disease risk.PloS one · 2017Article
- Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update.BMC genomics · 2016Review
- Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.American journal of medical genetics. Part A · 2015Article
Corrections and comments
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Authors and funding
9 authors.
Funding
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 families. The KEGG complement and coagulation cascade was one of the most enriched pathways in our two mother-daughter pairs. When the six genes found in this pathway (CFH, CR1, F13B, F5, CR2, and C4BPA) were examined for novel missense variants, half of all the exomes harbored at least one. Association analysis of variants in these six gene regions in nuclear families from Finland (237 cases and 328 controls) found statistically significant associations after multiple test corrections in three CR1 SNPs; the strongest in an exonic missense SNP, rs6691117, p value = 6.91e-5, OR = 1.71. Our results demonstrate the importance of the complement and coagulation cascades in the pathophysiology of PTB, and suggest potential screening and intervention approaches to prevent prematurity that target this pathway.
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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.