Association study designs for complex diseases

By Lon R. Cardon, J. Bell. Nature reviews genetics, 2001

1,519 citations recorded by the source corpus.

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Citations in the corpus

Probability Models for DNA Sequence Evolution (2002, background): “, Risch and Merikangas (1996) and Cardon and Bell (2001). The technique known as association mapping differs from traditional pedigree studies in that marker-disease associations are sought in populations of unrelated individuals.”
Linkage disequilibrium, genetic association mapping and gene localization in crop plants (2008, methodology): “The methods have been applied to association analyses in humans (Rosenberg et al., 2002; Cardon and Bell, 2001) and crop plants, with modified test statistics being used to deal with quantitative traits (Thornsberry et al.”
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease (2003, background): “, but are plagued by the impression that they are not consistently reproducibl”
High-throughput genotyping and mapping of single nucleotide polymorphisms in loblolly pine (Pinus taeda L.) (2008, background): “Associations are then inferred between variation at SNPs and the variation in a quantitative phenotype (Long and Langley 1999; Cardon and Bell 2001).”
Adjusting for treatment effects in studies of quantitative traits: antihypertensive therapy and systolic blood pressure (2005, background): “We give particular emphasis to statistical power because of its pivotal importance in genetic epidemiology [30, 31].”
Candidate-gene approaches for studying complex genetic traits: practical considerations (2002, background): “The aetiological heterogeneity that is inherent in the label 'complex disease' challenges the measurement and analysis of multiple genetic and environmental components, and the interpretation of multiple and conflicting findings of associatio”
The genetics and genomics of cancer (2003, neutral): “In this model, the genes can be sought, in principle, by 'association studies' in which variant alleles of candidate genes are tested for significant differences in frequency between cancer cases and matched controls (ref”
Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD). (2006, result): “This is consistent with an inflation of significance in case–control studies because of population stratification (76), but we suspect that this is unlikely because of the large number of case–control studies and the lack of significant evidence for heterogeneity of OR among the case–control studies”
PGA: power calculator for case-control genetic association analyses (2008, background): “Background Case-control genetic association studies are increasingly being used in studying the genetic basis of human complex traits [1-3].”
The power and promise of population genomics: from genotyping to genome typing (2003, background): “Complementary population-genomic approaches, such as quantitative trait loci (QTL) mapping in controlled populations, population-based mapping of genes through linkage disequilibrium (LD) and association studies, have been reviewed elsewher”
From genotype to phenotype: unraveling the complexities of cold adaptation in forest trees (2003, background): “In contrast with pedigree analyses, which involve detecting co-inheritance (i.e., linkage) between QTL and genetic markers over a few generations, association studies involve detecting co-inheritance that has persisted over many generations (see Box 2 in Cardon and Bell 2001).”
Association mapping of yield and its components in rice cultivars (2007, background): “Fear of false-positive outcomes arising from population stratification has virtually dictated progress in human association study design and analysis methodology ( Cardon and Bell 2001 , Y u et al. 2006).”
Linkage disequilibrium and association studies in higher plants: Present status and future prospects (2005, methodology): “, 1993; Spielman and Ewens, 1996; Allison, 1997), but one generally prefers to conduct case–control studies, since these have several advantages (Cardon and Bell, 2001) and are cheaper.”
Score tests for association between traits and haplotypes when linkage phase is ambiguous. (2002, background): “…genetic-marker maps, particularly those with single-nucleotide polymorphisms (SNPs) (The International SNP Map Working Group 2001), association studies will improve our ability to detect susceptibility alleles for common complex diseases (Risch 2000; Cardon and Bell 2001; Schork et al. 2001).”
Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology (2008, positive): “The Mendelian randomization approach requires reliable estimation of the associations between genotype and the modifiable exposure of interest and between genotype and the outcome of interest, but it is well recognized that genetic association studies often fail to replicate [81–83].”