ArticleGenome research2001
Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease.
Article in Genome research, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 5 of them syntheses that pooled it.
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Who cites it
129 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Quantitative assessment of the association between XPG Asp1104His polymorphism and bladder cancer risk.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Association between phosphodiesterase 4D gene and ischaemic stroke.Journal of neurology, neurosurgery, and psychiatry · 2006Pooled it
- Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples.Biological psychiatry · 2006Pooled it
- Haplotype analysis of VDR gene polymorphisms: a meta-analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2004Pooled it
- Pooling analysis of genetic data: the association of leptin receptor (LEPR) polymorphisms with variables related to human adiposity.Genetics · 2001Pooled it
- Functional polymorphisms of matrix metalloproteinase-9 and survival in patients with locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy.Medical oncology (Northwood, London, England) · 2013Trial
- Sister haplotypes and recombination disequilibrium: a new approach to identify associations of haplotypes with complex diseases.Frontiers in genetics · 2023Article
- Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges.Methods in molecular biology (Clifton, N.J.) · 2023Article
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- Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations.Communications biology · 2022Article
- Identification of polymorphic loci in the deiodinase 2 gene and their associations with head dimensions in geese.Animal bioscience · 2022Article
- Association analysis of single-nucleotide polymorphism in prolactin and its receptor with productive and body conformation traits in Liaoning cashmere goats.Archives animal breeding · 2022Article
- Efficient verification for outsourced genome-wide association studies.Journal of biomedical informatics · 2021Article
- Polymorphisms of the PRLR Gene and Their Association with Milk Production Traits in Egyptian Buffaloes.Animals : an open access journal from MDPI · 2021Article
- Statistically efficient association analysis of quantitative traits with haplotypes and untyped SNPs in family studies.BMC genetics · 2020Article
- Association of GHR Polymorphisms with Milk Production in Buffaloes.Animals : an open access journal from MDPI · 2020Article
- Statistical Method Based on Bayes-Type Empirical Score Test for Assessing Genetic Association with Multilocus Genotype Data.International journal of genomics · 2020Article
- Genetic and regulatory architecture of Alzheimer's disease in theAlzheimer's & dementia (Amsterdam, Netherlands) · 2020Article
- Insights into the Potential Role of Mercury in Alzheimer's Disease.Journal of molecular neuroscience : MN · 2019Review
- A Robust Reduced Rank Graph Regression Method for Neuroimaging Genetic Analysis.Neuroinformatics · 2018Article
69 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors.
Funding
Abstract
There is growing debate over the utility of multiple locus association analyses in the identification of genomic regions harboring sequence variants that influence common complex traits such as hypertension and diabetes. Much of this debate concerns the manner in which one can use the genotypic information from individuals gathered in simple sampling frameworks, such as the case/control designs, to actually assess the association between alleles in a particular genomic region and a trait. In this paper we describe methods for testing associations between estimated haplotype frequencies derived from multilocus genotype data and disease endpoints assuming a simple case/control sampling design. These proposed methods overcome the lack of phase information usually associated with samples of unrelated individuals and provide a comprehensive way of assessing the relationship between sequence or multiple-site variation and traits and diseases within populations. We applied the proposed methods in a study of the relationship between polymorphisms within the APOE gene region and Alzheimer's disease. Cases and controls for this study were collected from the United States and France. Our results confirm the known association between the APOE locus and Alzheimer's disease, even when the epsilon 4 polymorphism is not contained in the tested haplotypes. This suggests that, in certain situations, haplotype information and linkage disequilibrium-induced associations between polymorphic loci that neighbor loci harboring functional sequence variants can be exploited to identify disease-predisposing alleles in large, freely mixing populations via estimated haplotype frequency methods.
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