Evidence map›Paper›PMID 21936918›Full record

ArticleBMC genetics2011

On coding genotypes for genetic markers with multiple alleles in genetic association study of quantitative traits.

Tao Wang

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Article in BMC genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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3 · Its place in the literature

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4 citing papers in PubMed.

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5 · Who and what money

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1 author.

Tao WangDivision of Biostatistics, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI 53226, USA. taowang@mcw.edu

Funding

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6 · The paper itself

Abstract

backgroundIn genetic association study of quantitative traits using F(∞) models, how to code the marker genotypes and interpret the model parameters appropriately is important for constructing hypothesis tests and making statistical inferences. Currently, the coding of marker genotypes in building F(∞) models has mainly focused on the biallelic case. A thorough work on the coding of marker genotypes and interpretation of model parameters for F(∞) models is needed especially for genetic markers with multiple alleles.

resultsIn this study, we will formulate F(∞) genetic models under various regression model frameworks and introduce three genotype coding schemes for genetic markers with multiple alleles. Starting from an allele-based modeling strategy, we first describe a regression framework to model the expected genotypic values at given markers. Then, as extension from the biallelic case, we introduce three coding schemes for constructing fully parameterized one-locus F(∞) models and discuss the relationships between the model parameters and the expected genotypic values. Next, under a simplified modeling framework for the expected genotypic values, we consider several reduced one-locus F(∞) models from the three coding schemes on the estimability and interpretation of their model parameters. Finally, we explore some extensions of the one-locus F(∞) models to two loci. Several fully parameterized as well as reduced two-locus F(∞) models are addressed.

conclusionsThe genotype coding schemes provide different ways to construct F(∞) models for association testing of multi-allele genetic markers with quantitative traits. Which coding scheme should be applied depends on how convenient it can provide the statistical inferences on the parameters of our research interests. Based on these F(∞) models, the standard regression model fitting tools can be used to estimate and test for various genetic effects through statistical contrasts with the adjustment for environmental factors.

Indexed as

Genetic Association StudiesGenetic MarkersModels, GeneticQuantitative Trait, HeritableAllelesChromosome MappingGene FrequencyGenotypeModels, StatisticalQuantitative Trait LociGenetic Markers

Identifiers

PMID21936918
PMCPMC3224146

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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.