ArticleBMC pregnancy and childbirth2012
Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.
Article in BMC pregnancy and childbirth, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- The CD94/NKG2A inhibitory receptor educates uterine NK cells to optimize pregnancy outcomes in humans and mice.Immunity · 2021Pooled it
- A review of omics approaches to study preeclampsia.Placenta · 2020Pooled it
- Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.Nature genetics · 2017Pooled it
- Genome-wide transcriptome directed pathway analysis of maternal pre-eclampsia susceptibility genes.PloS one · 2015Trial
- Endogenous retroviral elements LTR8B and MER65 rewire PSG9 regulation to control trophoblast syncytialization and pre-eclampsia risk.Genome biology · 2026Article
- Molecular profiles of the great obstetrical syndromes reveal common features and dynamic changes in early pregnancy.Communications medicine · 2025Article
- Spatially constrained gene regulation identifies key genetic contributions of preeclampsia, hypertension, and proteinuria†.Biology of reproduction · 2023Article
- Pregnancy, preeclampsia and maternal aging: From epidemiology to functional genomics.Ageing research reviews · 2022Review
- Copy Number Analyses Identified a Novel Gene:Frontiers in cardiovascular medicine · 2022Article
- Preeclampsia, Natural History, Genes, and miRNAs Associated with the Syndrome.Journal of pregnancy · 2022Review
- Association of family history with incidence and gestational hypertension outcomes of preeclampsia.International Journal of Cardiology. Hypertension · 2021Article
- Integrated bioinformatics analysis reveals novel key biomarkers and potential candidate small molecule drugs in gestational diabetes mellitus.Bioscience reports · 2021Article
- The immune-modulating pregnancy-specific glycoproteins evolve rapidly and their presence correlates with hemochorial placentation in primates.BMC genomics · 2021Article
- STOX1 deficiency is associated with renin-mediated gestational hypertension and placental defects.JCI insight · 2021Article
- Identification of Key Pathways and Genes in Obesity Using Bioinformatics Analysis and Molecular Docking Studies.Frontiers in endocrinology · 2021Article
- Risk of pre-eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case-control study.BJOG : an international journal of obstetrics and gynaecology · 2021Article
- High blood pressure in pregnancy, DNA methylation, and later blood pressure in African American women enrolled in the InterGEN Study.Birth (Berkeley, Calif.) · 2020Article
- Placenta Transcriptome Profiling in Intrauterine Growth Restriction (IUGR).International journal of molecular sciences · 2019Article
- Recent progress in human placental transcriptomics.Developmental period medicine · 2019Article
- Activation of latent transforming growth factor-β1, a conserved function for pregnancy-specific beta 1-glycoproteins.Molecular human reproduction · 2018Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundSpecific genetic contributions for preeclampsia (PE) are currently unknown. This genome-wide association study (GWAS) aims to identify maternal single nucleotide polymorphisms (SNPs) and copy-number variants (CNVs) involved in the etiology of PE.
methodsA genome-wide scan was performed on 177 PE cases (diagnosed according to National Heart, Lung and Blood Institute guidelines) and 116 normotensive controls. White female study subjects from Iowa were genotyped on Affymetrix SNP 6.0 microarrays. CNV calls made using a combination of four detection algorithms (Birdseye, Canary, PennCNV, and QuantiSNP) were merged using CNVision and screened with stringent prioritization criteria. Due to limited DNA quantities and the deleterious nature of copy-number deletions, it was decided a priori that only deletions would be selected for assay on the entire case-control dataset using quantitative real-time PCR.
resultsThe top four SNP candidates had an allelic or genotypic p-value between 10(-5) and 10(-6), however, none surpassed the Bonferroni-corrected significance threshold. Three recurrent rare deletions meeting prioritization criteria detected in multiple cases were selected for targeted genotyping. A locus of particular interest was found showing an enrichment of case deletions in 19q13.31 (5/169 cases and 1/114 controls), which encompasses the PSG11 gene contiguous to a highly plastic genomic region. All algorithm calls for these regions were assay confirmed.
conclusionsCNVs may confer risk for PE and represent interesting regions that warrant further investigation. Top SNP candidates identified from the GWAS, although not genome-wide significant, may be useful to inform future studies in PE genetics.
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