ArticleEuropean journal of human genetics : EJHG2012
On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Neuregulin signaling pathway in smoking behavior.Translational psychiatry · 2017Article
- Neurocognitive performance in family-based and case-control studies of schizophrenia.Schizophrenia research · 2015Article
- PSEUDOMARKER 2.0: efficient computation of likelihoods using NOMAD.BMC bioinformatics · 2014Article
- Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.Reproductive sciences (Thousand Oaks, Calif.) · 2013Article
- A large-scale candidate gene analysis of mood disorders: evidence of neurotrophic tyrosine kinase receptor and opioid receptor signaling dysfunction.Psychiatric genetics · 2013Article
- Detection and impact of rare regulatory variants in human disease.Frontiers in genetics · 2013Article
- On the validity of the likelihood ratio test and consistency of resulting parameter estimates in joint linkage and linkage disequilibrium analysis under improperly specified parametric models.Annals of human genetics · 2012Article
- PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals.Human heredity · 2011Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
A common approach to genetic mapping of loci for complex diseases is to perform a genome-wide association study (GWAS) by analyzing a vast number of SNP markers in cohorts of unrelated cases and controls. A direct motivation for the case-control design is that unrelated, affected individuals can be easier to collect than large families with multiple affected persons in the Western world. Despite its higher potential power, investigators have not actively pursued family ascertainment in part because of a dearth of methods for analyzing such correlated data on a large scale. We examine the statistical properties of several commonly used family-based association tests, as to their performance using real-life mixtures of families and singletons taken from our own migraine and schizophrenia studies, as well as population-based data for a complex trait simulated with the evolutionary phenogenetic simulator, ForSim. In virtually every situation, the full likelihood-based methods in the PSEUDOMARKER program outperformed those implemented in FBAT, GENEHUNTER TDT, PLINK (family-based options), HRR/HHRR, QTDT, TRANSMIT, UNPHASED, MENDEL, and LAMP. We further show that GWAS is much more powerful when family samples are used rather than unrelateds, on a genotype-by-genotype basis.
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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.