ArticleHuman molecular genetics2015
Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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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
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
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias.JAMA network open · 2022Pooled it
- Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.Circulation. Cardiovascular genetics · 2017Pooled it
- The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.Research square · 2026Article
- Global Evaluation of Congenital Heart Disease-Associated Non-Coding Variants.Research square · 2026Article
- Human Genetics of Hypoplastic Left Heart Syndrome.Advances in experimental medicine and biology · 2024Article
- Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India.BMC pediatrics · 2023Article
- Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2022Article
- A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.American journal of medical genetics. Part A · 2022Article
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circulation research · 2022Article
- Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease.BMC genomic data · 2021Article
- Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs).Frontiers in cell and developmental biology · 2021Review
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Genetics of atrioventricular canal defects.Italian journal of pediatrics · 2020Review
- The genetics of isolated congenital heart disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.PloS one · 2020Article
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
- Genetic epidemiology of neural tube defects.Journal of pediatric rehabilitation medicine · 2017Review
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- Transgenerational cardiology: One way to a baby's heart is through the mother.Molecular and cellular endocrinology · 2016Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Congenital left-sided lesions (LSLs) are serious, heritable malformations of the heart. However, little is known about the genetic causes of LSLs. This study was undertaken to identify common variants acting through the genotype of the affected individual (i.e. case) or the mother (e.g. via an in utero effect) that influence the risk of LSLs. A genome-wide association study (GWAS) was performed using data from 377 LSL case-parent triads, with follow-up studies in an independent sample of 224 triads and analysis of the combined data. Associations with both the case and maternal genotypes were assessed using log-linear analyses under an additive model. An association between LSLs and the case genotype for one intergenic SNP on chromosome 16 achieved genome-wide significance in the combined data (rs8061121, combined P = 4.0 × 10(-9); relative risk to heterozygote: 2.6, 95% CI: 1.9-3.7). In the combined data, there was also suggestive evidence of association between LSLs and the case genotype for a variant in the synaptoporin gene (rs1975649, combined P = 3.4 × 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0) and between LSLs and the maternal genotype for an intergenic SNP on chromosome 10 (rs11008222, combined P = 6.3 × 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0). This is the first GWAS of LSLs to evaluate associations with both the case and maternal genotypes. The results of this study identify three candidate LSL susceptibility loci, including one that appears to be associated with the risk of LSLs via the maternal genotype.
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