Segregation analysis comparing liability and quantitative trait models for hypertension using the Genetic Analysis Workshop 13 simulated data.
BMC Genet
; 4 Suppl 1: S79, 2003 Dec 31.
Article
em En
| MEDLINE
| ID: mdl-14975147
ABSTRACT
Discrete (qualitative) data segregation analysis may be performed assuming the liability model, which involves an underlying normally distributed quantitative phenotype. The appropriateness of the liability model for complex traits is unclear. The Genetic Analysis Workshop 13 simulated data provides measures on systolic blood pressure, a highly complex trait, which may be dichotomized into a discrete trait (hypertension). We perform segregation analysis under the liability model of hypertensive status as a qualitative trait and compare this with results using systolic blood pressure as a quantitative trait (without prior knowledge at that stage of the true underlying simulation model) using 1050 pedigrees ascertained from four replicates on the basis of at least one affected member. Both analyses identify models with major genes and polygenic components to explain the family aggregation of systolic blood pressure. Neither of the methods estimates the true parameters well (as the true model is considerably more complicated than those considered for the analysis), but both identified the most complicated model evaluated as the preferred model. Segregation analysis of complex diseases using relatively simple models is unlikely to provide accurate parameter estimates but is able to indicate major gene and/or polygenic components in familial aggregation of complex diseases.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
1_ASSA2030
Base de dados:
MEDLINE
Assunto principal:
Desequilíbrio de Ligação
/
Característica Quantitativa Herdável
/
Hipertensão
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Modelos Genéticos
Tipo de estudo:
Etiology_studies
/
Health_economic_evaluation
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Incidence_studies
/
Observational_studies
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Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
Limite:
Adult
/
Aged
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Aged80
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
BMC Genet
Ano de publicação:
2003
Tipo de documento:
Article