ArticleBMC medical genomics2010
Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth.
Article in BMC medical genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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.
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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
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Finding lost genes in GWAS via integrative-omics analysis reveals novel sub-networks associated with preterm birth.Human molecular genetics · 2016Pooled it
- Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci.Nature communications · 2020Article
- Associations of maternal PLA2G4C and PLA2G4D polymorphisms with the risk of spontaneous preterm birth in a Chinese population.Molecular medicine reports · 2017Article
- Molecular Regulation of Parturition: The Role of the Decidual Clock.Cold Spring Harbor perspectives in medicine · 2015Review
- Genomics of preterm birth.Cold Spring Harbor perspectives in medicine · 2015Review
- Disease consequences of human adaptation.Applied & translational genomics · 2013Review
- Fetal programming and environmental exposures: implications for prenatal care and preterm birth.Annals of the New York Academy of Sciences · 2012Article
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 4 countries.
Funding
Abstract
backgroundThe onset of birth in humans, like other apes, differs from non-primate mammals in its endocrine physiology. We hypothesize that higher primate-specific gene evolution may lead to these differences and target genes involved in human preterm birth, an area of global health significance.
methodsWe performed a comparative genomics screen of highly conserved noncoding elements and identified PLA2G4C, a phospholipase A isoform involved in prostaglandin biosynthesis as human accelerated. To examine whether this gene demonstrating primate-specific evolution was associated with birth timing, we genotyped and analyzed 8 common single nucleotide polymorphisms (SNPs) in PLA2G4C in US Hispanic (n = 73 preterm, 292 control), US White (n = 147 preterm, 157 control) and US Black (n = 79 preterm, 166 control) mothers.
resultsDetailed structural and phylogenic analysis of PLA2G4C suggested a short genomic element within the gene duplicated from a paralogous highly conserved element on chromosome 1 specifically in primates. SNPs rs8110925 and rs2307276 in US Hispanics and rs11564620 in US Whites were significant after correcting for multiple tests (p < 0.006). Additionally, rs11564620 (Thr360Pro) was associated with increased metabolite levels of the prostaglandin thromboxane in healthy individuals (p = 0.02), suggesting this variant may affect PLA2G4C activity.
conclusionsOur findings suggest that variation in PLA2G4C may influence preterm birth risk by increasing levels of prostaglandins, which are known to regulate labor.
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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.