title: Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits.
abstract: The detection of parent-of-origin effects aims to identify whether the functionality of alleles, and in turn associated phenotypic traits, depends on the parental origin of the alleles. Different parent-of-origin effects have been identified through a variety of mechanisms and a number of statistical methodologies for their detection have been proposed, in particular for genome-wide association studies (GWAS). GWAS have had limited success in explaining the heritability of many complex disorders and traits, but successful identification of parent-of-origin effects using trio (mother, father and offspring) GWAS may help shed light on this missing heritability. However, it is important to choose the most appropriate parent-of-origin test or methodology, given knowledge of the phenotype, amount of available data and the type of parent-of-origin effect(s) being considered. This review brings together the parent-of-origin detection methodologies available, comparing them in terms of power and type I error for a number of different simulated data scenarios, and finally offering guidance as to the most appropriate choice for the different scenarios.
authors.forename: Siobhan
authors.initials: S
authors.lastname: Connolly
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Heron
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D003627:Data Interpretation, Statistical; D056426:Genetic Loci / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D019655:Quantitative Trait, Heritable; D018570:Risk Assessment / Q000379:methods
keywords: Genome-wide association studies; imprinting; maternal genetic effects; mother/offspring genotype interactions