ArticleAmerican journal of human genetics2004
The future of association studies: gene-based analysis and replication.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 268 papers, 15 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
268 citing papers in PubMed, 15 syntheses or guidelines pooled it.
- GWAS meta-analysis of axial spondyloarthritis and Behçet's disease identifies CXCR6 as a novel MHC-I-opathy gene in a Turkish population.Clinical rheumatology · 2025Pooled it
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- Genome-wide association study of shared liability to anxiety disorders in Army STARRS.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Pooled it
- Locus and gene-based GWAS meta-analysis identifies new diabetic nephropathy genes.Immunogenetics · 2018Pooled it
- Novel linkage disequilibrium clustering algorithm identifies new lupus genes on meta-analysis of GWAS datasets.Immunogenetics · 2017Pooled it
- Meta-analysis of Positive and Negative Symptoms Reveals Schizophrenia Modifier Genes.Schizophrenia bulletin · 2016Pooled it
- Evaluating historical candidate genes for schizophrenia.Molecular psychiatry · 2015Pooled it
- Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies.PloS one · 2015Pooled it
- Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.Human molecular genetics · 2014Pooled it
- Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population.Human genetics · 2013Pooled it
- Gene set of nuclear-encoded mitochondrial regulators is enriched for common inherited variation in obesity.PloS one · 2013Pooled it
- No association of genetic variants in BDNF with major depression: a meta- and gene-based analysis.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013Pooled it
- Prioritization and association analysis of murine-derived candidate genes in anxiety-spectrum disorders.Biological psychiatry · 2011Pooled it
- Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.PLoS genetics · 2010Pooled it
- Allelic heterogeneity in genetic association meta-analysis: an application to DTNBP1 and schizophrenia.Human heredity · 2010Pooled it
- Analysis of FokI polymorphism of vitamin D receptor gene in intervertebral disc degeneration.Genetic testing and molecular biomarkers · 2014Trial
- Genetic correlate of cognitive training response in schizophrenia.Neuropharmacology · 2013Trial
- Genetic and clinical predictors of sexual dysfunction in citalopram-treated depressed patients.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009Trial
- BMI-Dependent Associations of the Estradiol-Linked Polymorphism rs117585797 of theLife (Basel, Switzerland) · 2026Article
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
208 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
2 authors.
Funding
Abstract
Historically, association tests were limited to single variants, so that the allele was considered the basic unit for association testing. As marker density increases and indirect approaches are used to assess association through linkage disequilibrium, association is now frequently considered at the haplotypic level. We suggest that there are difficulties in replicating association findings at the single-nucleotide-polymorphism (SNP) or the haplotype level, and we propose a shift toward a gene-based approach in which all common variation within a candidate gene is considered jointly. Inconsistencies arising from population differences are more readily resolved by use of a gene-based approach rather than either a SNP-based or a haplotype-based approach. A gene-based approach captures all of the potential risk-conferring variations; thus, negative findings are subject only to the issue of power. In addition, chance findings due to multiple testing can be readily accounted for by use of a genewide-significance level. Meta-analysis procedures can be formalized for gene-based methods through the combination of P values. It is only a matter of time before all variation within genes is mapped, at which point the gene-based approach will become the natural end point for association analysis and will inform our search for functional variants relevant to disease etiology.
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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.