ArticleAmerican journal of human genetics2015
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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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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Who cites it
37 citing papers in PubMed, 61 citations in OpenAlex.
- Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.bioRxiv : the preprint server for biology · 2026Article
- Article
- Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS.International journal of molecular sciences · 2025Article
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- Cardiomyocyte proliferation and regeneration in congenital heart disease.Pediatric discovery · 2024Article
- Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.NPJ genomic medicine · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Postoperative recurrence of mixed extragonadal germ cell tumor in the right shoulder: a case report.Diagnostic pathology · 2023Article
- Genomic insights in ascending aortic size and distensibility.EBioMedicine · 2022Article
- Toxic and Teratogenic Effects of Prenatal Alcohol Exposure on Fetal Development, Adolescence, and Adulthood.International journal of molecular sciences · 2021Review
- Co-Occurring HeterozygousGenes · 2021Article
- Mending a broken heart:Disease models & mechanisms · 2021Review
- Review
- Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia.Cancers · 2021Review
- Review
- Modifier genes in SCN1A-related epilepsy syndromes.Molecular genetics & genomic medicine · 2020Article
- Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.American journal of human genetics · 2020Article
- Candidate modifier genes for immune function in 22q11.2 deletion syndrome.Molecular genetics & genomic medicine · 2020Article
- Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre.Journal of genetics · 2019Article
- Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
We performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS), of whom 89 case subjects had severe congenital heart disease (CHD) and 95 control subjects had normal hearts. Three genes including JMJD1C (jumonji domain containing 1C), RREB1 (Ras responsive element binding protein 1), and SEC24C (SEC24 family member C) had rare (MAF < 0.001) predicted deleterious single-nucleotide variations (rdSNVs) in seven case subjects and no control subjects (p = 0.005; Fisher exact and permutation tests). Because JMJD1C and RREB1 are involved in chromatin modification, we investigated other histone modification genes. Eighteen case subjects (20%) had rdSNVs in four genes (JMJD1C, RREB1, MINA, KDM7A) all involved in demethylation of histones (H3K9, H3K27). Overall, rdSNVs were enriched in histone modifier genes that activate transcription (Fisher exact p = 0.0004, permutations, p = 0.0003, OR = 5.16); however, rdSNVs in control subjects were not enriched. This implicates histone modification genes as influencing risk for CHD in presence of the deletion.
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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.