ReviewAmerican journal of human genetics2018
Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci.
Review in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 4 of them syntheses 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
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
58 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits.American journal of human genetics · 2025Pooled it
- Genomic loci involved in sensing environmental cues and metabolism affect seasonal coat shedding in Bos taurus and Bos indicus cattle.G3 (Bethesda, Md.) · 2024Pooled it
- Pooled it
- Interpretation of risk loci from genome-wide association studies of Alzheimer's disease.The Lancet. Neurology · 2020Pooled it
- A ∼18 kb upstream deletion of H2AFY is associated with the feathered leg trait in Yanying chickens.Poultry science · 2026Article
- GWAS combined with transcriptomics revealed key regulatory genes for inflorescence traits and fruit set rate in Litchi (Litchi chinensis Sonn.).BMC genomics · 2025Article
- Identification and Functional Assessment of Candidate CausalCirculation. Genomic and precision medicine · 2025Article
- Trans-ancestry transcriptome-wide association and functional studies to uncover novel susceptibility genes and therapeutic targets for colorectal cancer.NPJ precision oncology · 2025Article
- Targeting Regulatory Noncoding RNAs in Human Cancer: The State of the Art in Clinical Trials.Pharmaceutics · 2025Review
- Racial disparity in prostate cancer: an outlook in genetic and molecular landscape.Cancer metastasis reviews · 2024Review
- Single-housing-induced islet epigenomic changes are related to polymorphisms in diabetic KK mice.Life science alliance · 2024Article
- SpRY-mediated screens facilitate functional dissection of non-coding sequences at single-base resolution.Cell genomics · 2024Article
- Scarless genome editing technology and its application to crop improvement.Breeding science · 2024Article
- New findings on the genetic basis of feathered legs in chickens: association of CUBN gene mutations with feathered-leg phenotype.Journal of animal science · 2024Article
- The limitations of phenotype prediction in metabolism.PLoS computational biology · 2023Article
- Functional genomics identify causal variant underlying the protective CTSH locus for Alzheimer's disease.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2023Article
- Hierarchical association of COPD to principal genetic components of biological systems.PloS one · 2023Article
- Integration of eQTL Analysis and GWAS Highlights Regulation Networks in Cotton under Stress Condition.International journal of molecular sciences · 2022Article
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- Genetic mapping reveals complex architecture and candidate genes involved in common bean response to Meloidogyne incognita infection.The plant genome · 2022Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Genome-wide association studies (GWASs) have identified thousands of loci associated with hundreds of complex diseases and traits, and progress is being made toward elucidating the causal variants and genes underlying these associations. Functional characterization of mechanisms at GWAS loci is a multi-faceted challenge. Challenges include linkage disequilibrium and allelic heterogeneity at each locus, the noncoding nature of most loci, and the time and cost needed for experimentally evaluating the potential mechanistic contributions of genes and variants. As GWAS sample sizes increase, more loci are identified, and the complexities of individual loci emerge. Loci can consist of multiple association signals, each of which can reflect the influence of multiple variants, inseparable by association analyses. Each signal within a locus can influence the same or different target genes. Experimental studies of genes and variants can differ on the basis of cell type, cellular environment, or other context-specific variables. In this review, we describe the complexity of mechanisms at GWAS loci-including multiple signals, multiple variants, and/or multiple genes-and the implications these complexities hold for experimental study design and interpretation of GWAS mechanisms.
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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.