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A statistical design for testing transgenerational genomic imprinting in natural human populations.


ABSTRACT: Genomic imprinting is a phenomenon in which the same allele is expressed differently, depending on its parental origin. Such a phenomenon, also called the parent-of-origin effect, has been recognized to play a pivotal role in embryological development and pathogenesis in many species. Here we propose a statistical design for detecting imprinted loci that control quantitative traits based on a random set of three-generation families from a natural population in humans. This design provides a pathway for characterizing the effects of imprinted genes on a complex trait or disease at different generations and testing transgenerational changes of imprinted effects. The design is integrated with population and cytogenetic principles of gene segregation and transmission from a previous generation to next. The implementation of the EM algorithm within the design framework leads to the estimation of genetic parameters that define imprinted effects. A simulation study is used to investigate the statistical properties of the model and validate its utilization. This new design, coupled with increasingly used genome-wide association studies, should have an immediate implication for studying the genetic architecture of complex traits in humans.

SUBMITTER: Li Y 

PROVIDER: S-EPMC3045439 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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A statistical design for testing transgenerational genomic imprinting in natural human populations.

Li Yao Y   Guo Yunqian Y   Wang Jianxin J   Hou Wei W   Chang Myron N MN   Liao Duanping D   Wu Rongling R  

PloS one 20110225 2


Genomic imprinting is a phenomenon in which the same allele is expressed differently, depending on its parental origin. Such a phenomenon, also called the parent-of-origin effect, has been recognized to play a pivotal role in embryological development and pathogenesis in many species. Here we propose a statistical design for detecting imprinted loci that control quantitative traits based on a random set of three-generation families from a natural population in humans. This design provides a path  ...[more]

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