ArticleAmerican journal of human genetics2006
Efficient study designs for test of genetic association using sibship data and unrelated cases and controls.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 4 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.BMC genomics · 2016Pooled it
- Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.The American journal of clinical nutrition · 2013Pooled it
- SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.PloS one · 2013Pooled it
- A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.Molecular psychiatry · 2013Pooled it
- RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.Genetic epidemiology · 2025Article
- Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing.Zoological research · 2023Article
- A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.American journal of human genetics · 2019Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.Frontiers in neuroscience · 2018Article
- Selecting cases and controls for DNA sequencing studies using family histories of disease.Statistics in medicine · 2017Article
- The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.American journal of human genetics · 2017Article
- A novel locus on chromosome 1 underlies the evolution of a melanic plumage polymorphism in a wild songbird.Royal Society open science · 2017Article
- G-STRATEGY: Optimal Selection of Individuals for Sequencing in Genetic Association Studies.Genetic epidemiology · 2016Article
- Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease.American journal of human genetics · 2016Article
- Genome-wide linkage on chromosome 10q26 for a dimensional scale of major depression.Journal of affective disorders · 2016Article
- Article
- The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.Biological psychiatry · 2015Article
- Proceedings: consideration of genetics in the design of induced pluripotent stem cell-based models of complex disease.Stem cells translational medicine · 2014Review
- Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission.Nature · 2014Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors.
Funding
Abstract
Linkage mapping of complex diseases is often followed by association studies between phenotypes and marker genotypes through use of case-control or family-based designs. Given fixed genotyping resources, it is important to know which study designs are the most efficient. To address this problem, we extended the likelihood-based method of Li et al., which assesses whether there is linkage disequilibrium between a disease locus and a SNP, to accommodate sibships of arbitrary size and disease-phenotype configuration. A key advantage of our method is the ability to combine data from different family structures. We consider scenarios for which genotypes are available for unrelated cases, affected sib pairs (ASPs), or only one sibling per ASP. We construct designs that use cases only and others that use unaffected siblings or unrelated unaffected individuals as controls. Different combinations of cases and controls result in seven study designs. We compare the efficiency of these designs when the number of individuals to be genotyped is fixed. Our results suggest that (1) when the disease is influenced by a single gene, the one sibling per ASP-control design is the most efficient, followed by the ASP-control design, and familial cases contribute more association information than singleton cases; (2) when the disease is influenced by multiple genes, familial cases provide more association information than singleton cases, unless the effect of the locus being tested is much smaller than at least one other untested disease locus; and (3) the case-control design can be useful for detecting genes with small effect in the presence of genes with much larger effect. Our findings will be helpful for researchers designing and analyzing complex disease-association studies and will facilitate genotyping resource allocation.
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