ArticleAmerican journal of human genetics1997
Transmission-disequilibrium tests for quantitative traits.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 111 papers, 1 of them a synthesis that pooled it.
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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
111 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis of serotonin transporter gene promoter polymorphism (5-HTTLPR) association with selective serotonin reuptake inhibitor efficacy in depressed patients.Molecular psychiatry · 2007Pooled it
- Ambulatory blood pressure, left ventricular mass and vascular phenotypes in relation to the endothelial nitric oxide synthase gene Glu298Asp and intron 4 polymorphisms in a population-based family study.Journal of human hypertension · 2005Trial
- Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.Diabetes · 1999Trial
- A generalized test of genotype-phenotype causality in population-sampled nuclear families.PLoS genetics · 2026Article
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- Causal interpretations of family GWAS in the presence of heterogeneous effects.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Interpreting population- and family-based genome-wide association studies in the presence of confounding.PLoS biology · 2024Article
- Causal interpretations of family GWAS in the presence of heterogeneous effects.bioRxiv : the preprint server for biology · 2023Article
- Interpreting population and family-based genome-wide association studies in the presence of confounding.bioRxiv : the preprint server for biology · 2023Article
- Conditioning on parental mating types can reduce necessary assumptions for Mendelian randomization.Frontiers in genetics · 2023Article
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Causal inference in genetic trio studies.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Candidate-gene association analysis for a continuous phenotype with a spike at zero using parent-offspring trios.Journal of applied statistics · 2020Article
- Including non-informative parents in transmission-based association tests.Journal of human genetics · 2017Article
- Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease.Molecular neurobiology · 2017Article
- Polymorphisms in Wnt signaling pathway genes are associated with peak bone mineral density, lean mass, and fat mass in Chinese male nuclear families.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Article
- Analysis of Case-Parent Trios Using a Loglinear Model with Adjustment for Transmission Ratio Distortion.Frontiers in genetics · 2016Article
- Article
- Statistical equivalent of the classical TDT for quantitative traits and multivariate phenotypes.Journal of genetics · 2015Review
51 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
1 author.
Funding
Abstract
The transmission-disequilibrium test (TDT) of Spielman et al. is a family-based linkage-disequilibrium test that offers a powerful way to test for linkage between alleles and phenotypes that is either causal (i.e., the marker locus is the disease/trait allele) or due to linkage disequilibrium. The TDT is equivalent to a randomized experiment and, therefore, is resistant to confounding. When the marker is extremely close to the disease locus or is the disease locus itself, tests such as the TDT can be far more powerful than conventional linkage tests. To date, the TDT and most other family-based association tests have been applied only to dichotomous traits. This paper develops five TDT-type tests for use with quantitative traits. These tests accommodate either unselected sampling or sampling based on selection of phenotypically extreme offspring. Power calculations are provided and show that, when a candidate gene is available (1) these TDT-type tests are at least an order of magnitude more efficient than two common sib-pair tests of linkage; (2) extreme sampling results in substantial increases in power; and (3) if the most extreme 20% of the phenotypic distribution is selectively sampled, across a wide variety of plausible genetic models, quantitative-trait loci explaining as little as 5% of the phenotypic variation can be detected at the .0001 alpha level with <300 observations.
Indexed as
Identifiers
9042929PMC1712500What OpenQuestion holds
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.