ArticleAmerican journal of human genetics2012
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.PLoS genetics · 2013Pooled it
- PHLDA2 in cancer: From molecular mechanisms to therapeutic opportunities.The Journal of pharmacology and experimental therapeutics · 2025Review
- Reconsidering the developmental origins of adult disease paradigm: The 'metabolic coordination of childbirth' hypothesis.Evolution, medicine, and public health · 2024Review
- Placental endocrine insufficiency programs anxiety, deficits in cognition and atypical social behaviour in offspring.Human molecular genetics · 2021Article
- Deletion of the ImprintedGenes · 2021Article
- Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction.Journal of assisted reproduction and genetics · 2021Article
- Article
- Mining the literature for genes associated with placenta-mediated maternal diseases.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2017Article
- Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Clinical epigenetics · 2016Article
- Epigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.Frontiers in genetics · 2016Article
- Relationships of maternal and paternal anthropometry with neonatal body size, proportions and adiposity in an Australian cohort.American journal of physical anthropology · 2015Article
- Between Scylla and Charybdis: renegotiating resolution of the 'obstetric dilemma' in response to ecological change.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2015Review
- The role and interaction of imprinted genes in human fetal growth.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2015Review
- Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta.Human molecular genetics · 2014Article
- Isolating the role of elevated Phlda2 in asymmetric late fetal growth restriction in mice.Disease models & mechanisms · 2014Article
- Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes.Journal of assisted reproduction and genetics · 2014Article
- Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude.Physiological genomics · 2014Article
- Imprinted gene expression in hybrids: perturbed mechanisms and evolutionary implications.Heredity · 2014Review
- The role of genomic imprinting in biology and disease: an expanding view.Nature reviews. Genetics · 2014Review
- Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.PloS one · 2014Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Birth weight is an important indicator of both perinatal and adult health, but little is known about the genetic factors contributing to its variability. Intrauterine growth restriction is a leading cause of perinatal morbidity and mortality and is also associated with adult disease. A significant correlation has been reported between lower birth weight and increased expression of the maternal PHLDA2 allele in term placenta (the normal imprinting pattern was maintained). However, a mechanism that explains the transcriptional regulation of PHLDA2 on in utero growth has yet to be described. In this study, we sequenced the PHLDA2 promoter region in 263 fetal DNA samples to identify polymorphic variants. We used a luciferase reporter assay to identify in the PHLDA2 promoter a 15 bp repeat sequence (RS1) variant that significantly reduces PHLDA2-promoter efficiency. RS1 genotyping was then performed in three independent white European normal birth cohorts. Meta-analysis of all three (total n = 9,433) showed that maternal inheritance of RS1 resulted in a significant 93 g increase in birth weight (p = 0.01; 95% confidence interval [CI] = 22-163). Moreover, when the mother was homozygous for RS1, the influence on birth weight was 155 g (p = 0.04; 95% CI = 9-300), which is a similar magnitude to the reduction in birth weight caused by maternal smoking.
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Registered trials
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