ArticlePloS one2008
Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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.
The trial behind it
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 167 citations in OpenAlex.
- Genome-wide association study in two populations to determine genetic variants associated with Toxoplasma gondii infection and relationship to schizophrenia risk.Progress in neuro-psychopharmacology & biological psychiatry · 2019Pooled it
- Treatment of congenital toxoplasmosis with pyrimethamine combined with sulfadiazine in a Chinese neonate: a case report.Frontiers in pediatrics · 2026Article
- Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.Biomolecules · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Toxoplasmosis Infection during Pregnancy.Tropical medicine and infectious disease · 2022Review
- In Silico Analysis of Collagens Missense SNPs and Human Abnormalities.Biochemical genetics · 2022Article
- Building Programs to Eradicate Toxoplasmosis Part I: Introduction and Overview.Current pediatrics reports · 2022Review
- Building Programs to Eradicate Toxoplasmosis Part IV: Understanding and Development of Public Health Strategies and Advances "Take a Village".Current pediatrics reports · 2022Review
- Review
- Host-parasite interaction associated with major mental illness.Molecular psychiatry · 2020Article
- Overlapping Spectrum of Retinochoroidal Scarring in Congenital Zika Virus and Toxoplasmosis Infections.Ophthalmic surgery, lasers & imaging retina · 2019Article
- Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.Journal of advanced research · 2019Article
- Toxoplasmosis in Germany.Deutsches Arzteblatt international · 2019Review
- Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives.Psychiatry investigation · 2019Article
- Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.Human genomics · 2018Article
- Delivery of parasite Cdg7_Flc_0990 RNA transcript into intestinal epithelial cells during Cryptosporidium parvum infection suppresses host cell gene transcription through epigenetic mechanisms.Cellular microbiology · 2017Article
- Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.Scientific reports · 2017Article
- Reply to Wallon and Peyron.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2016Article
- Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.American journal of human genetics · 2015Article
- Strain hypothesis of Toxoplasma gondii infection on the outcome of human diseases.Acta physiologica (Oxford, England) · 2015Review
Corrections and comments
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Authors and funding
29 authors at 19 institutions in 8 countries.
Funding
Abstract
backgroundPrimary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. METHODS AND
findingsIn 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.
conclusionsThese associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite.
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