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

Yao Li, Yunqian Guo, Jianxin Wang, Wei Hou, Myron N. Chang, Duanping Liao, Rongling Wu

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish (US)
Article numbere16858
JournalPLoS One
Volume6
Issue number2
DOIs
StatePublished - Mar 7 2011

Fingerprint

Genomic Imprinting
genomic imprinting
human population
Internal-External Control
Genome-Wide Association Study
Testing
Statistical Models
Cytogenetics
Genes
Population
Alleles
testing
gene segregation
quantitative traits
cytogenetics
pathogenesis
alleles
loci
genes

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

Li, Yao ; Guo, Yunqian ; Wang, Jianxin ; Hou, Wei ; Chang, Myron N. ; Liao, Duanping ; Wu, Rongling. / A statistical design for testing transgenerational genomic imprinting in natural human populations. In: PLoS One. 2011 ; Vol. 6, No. 2.
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A statistical design for testing transgenerational genomic imprinting in natural human populations. / Li, Yao; Guo, Yunqian; Wang, Jianxin; Hou, Wei; Chang, Myron N.; Liao, Duanping; Wu, Rongling.

In: PLoS One, Vol. 6, No. 2, e16858, 07.03.2011.

Research output: Contribution to journalArticle

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