ArticlePloS one2012
The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 3 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
63 citing papers in PubMed, 3 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1L.The Journal of clinical endocrinology and metabolism · 2021Pooled it
- Identifying Risk Genes and Interpreting Pathogenesis for Parkinson's Disease by a Multiomics Analysis.Genes · 2020Pooled it
- Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood.Nature communications · 2018Pooled it
- Genetically informed prioritization of immune checkpoint-associated genes in head and neck cancer highlights HGF and AKT1.Functional & integrative genomics · 2026Article
- Phantom epistasis through the lens of genealogies.Genetics · 2026Article
- Integrative Genomics Refines Tissues, Candidate Genes and Putative Regulatory Links Involved in the Humic Adaptation of Keystone Freshwater Fish.Molecular ecology · 2025Article
- Causal network inference of cis- and trans-gene regulation of expression quantitative trait loci across human tissues.Genetics · 2025Article
- The influence of genetics on the endocannabinoid system gene expression and relevance for targeting reproductive conditions.Journal of cannabis research · 2025Article
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- An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues.American journal of human genetics · 2024Article
- The rs2046210 Polymorphism Is Associated with Endometriosis Risk and Elevated Estrogen Receptor 1 Expression in the Eutopic Endometrium of Women with the Disease.Biomedicines · 2024Article
- Association of Cadherin-Related Family Member 1 with Traumatic Brain Injury.Cellular and molecular neurobiology · 2024Article
- Genetic control of DNA methylation is largely shared across European and East Asian populations.Nature communications · 2024Article
- Rare genetic variants underlie outlying levels of DNA methylation and gene-expression.Human molecular genetics · 2023Article
- Identical twins carry a persistent epigenetic signature of early genome programming.Nature communications · 2021Article
- Linkage and association study discovered loci and candidate genes for glycinin and β-conglycinin in soybean (Glycine max L. Merr.).TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2021Article
- Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium.Molecular human reproduction · 2021Article
- Genome-wide association mapping for protein, oil and water-soluble protein contents in soybean.Molecular genetics and genomics : MGG · 2021Article
- Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data.Nature communications · 2020Article
- Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.Human molecular genetics · 2019Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is growing evidence that genetic risk factors for common disease are caused by hereditary changes of gene regulation acting in complex pathways. Clearly understanding the molecular genetic relationships between genetic control of gene expression and its effect on complex diseases is essential. Here we describe the Brisbane Systems Genetics Study (BSGS), a family-based study that will be used to elucidate the genetic factors affecting gene expression and the role of gene regulation in mediating endophenotypes and complex diseases.BSGS comprises of a total of 962 individuals from 314 families, for which we have high-density genotype, gene expression and phenotypic data. Families consist of combinations of both monozygotic and dizygotic twin pairs, their siblings, and, for 72 families, both parents. A significant advantage of the inclusion of parents is improved power to disentangle environmental, additive genetic and non-additive genetic effects of gene expression and measured phenotypes. Furthermore, it allows for the estimation of parent-of-origin effects, something that has not previously been systematically investigated in human genetical genomics studies. Measured phenotypes available within the BSGS include blood phenotypes and biochemical traits measured from components of the tissue sample in which transcription levels are determined, providing an ideal test case for systems genetics approaches.We report results from an expression quantitative trait loci (eQTL) analysis using 862 individuals from BSGS to test for associations between expression levels of 17,926 probes and 528,509 SNP genotypes. At a study wide significance level approximately 15,000 associations were observed between expression levels and SNP genotypes. These associations corresponded to a total of 2,081 expression quantitative trait loci (eQTL) involving 1,503 probes. The majority of identified eQTL (87%) were located within cis-regions.
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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.