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Brugger, M. ; Rospleszcz, S. ; Strauch, K.

Estimation of trait-model parameters in a MOD score linkage analysis.

Hum. Hered. 82, 103-139 (2016)
Publ. Version/Full Text DOI PMC
Open Access Gold (Paid Option)
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BACKGROUND/AIMS: Theoretically, the trait-model parameters (disease allele frequency and penetrance function) can be estimated without bias in a MOD score linkage analysis. We aimed to practically evaluate the MOD score approach regarding its ability to provide unbiased trait-model parameters for various pedigree-type and trait-model scenarios. We further investigated the ability of the MOD score approach to detect imprinting using affected sib pairs (ASPs) and affected half-sib pairs (AHSPs) when all parental genotypes are missing. METHODS: Simulated pedigree data were analyzed using the GENEHUNTER-MODSCORE software package. Parameter estimation performance in terms of bias and variability was evaluated with regard to trait-model type and pedigree complexity. RESULTS: Generally, parameters were estimated with lower bias and variability with increasing pedigree complexity, especially for recessive and overdominant models. However, dominant and additive models could hardly be distinguished even when using 3-generation pedigrees. Imprinting could clearly be detected for mixtures of mainly ASPs and only few AHSPs with the common parent of the imprinted sex, even though no parental genotypes were available. CONCLUSION: Our results provide guidance to researchers regarding the possibility to estimate trait-model parameters by a MOD score analysis, including the degree of imprinting, with certain types of pedigrees.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Estimation Bias ; Identifiability ; Mod Scores ; Parametric Linkage Analysis ; Trait-model Parameters; Segregation Analysis; Ascertainment Bias; Lod Scores; Genehunter-modscore; Inferring Mode; Pedigree Data; Inheritance; Disease; Simulation; Markers
ISSN (print) / ISBN 0001-5652
e-ISSN 1423-0062
Journal Human Heredity
Quellenangaben Volume: 82, Issue: 3-4, Pages: 103-139 Article Number: , Supplement: ,
Publisher Karger
Publishing Place Basel
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology II (EPI2)