X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects.

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  • Additional Information
    • Source:
      Publisher: Springer India in co-pulbication with Indian Academy of Sciences Country of Publication: India NLM ID: 2985113R Publication Model: Print Cited Medium: Internet ISSN: 0973-7731 (Electronic) Linking ISSN: 00221333 NLM ISO Abbreviation: J Genet Subsets: MEDLINE
    • Publication Information:
      Publication: 2007- : New Delhi : Springer India in co-pulbication with Indian Academy of Sciences
      Original Publication: London : Chicago : Cambridge University Press ; University of Chicago Press,
    • Subject Terms:
      Genetic Association Studies* ; Genomic Imprinting* ; X Chromosome Inactivation*; Case-Control Studies ; Female ; Humans ; Male ; Models, Genetic ; Phenotype
    • Abstract:
      Studies have shown that many complex diseases are sex-determined. When conducting genetic association studies on X-chromosome, there are two important epigenetic factors which should be considered simultaneously: X-chromosome inactivation and genomic imprinting. Currently, there have been several association tests accounting for the information on X-chromosome inactivation. However, these tests do not take the imprinting effects into account. In this paper, we propose a novel association test simultaneously incorporating X-chromosome inactivation and imprinting effects based on case-parent trios and control-parent trios for female offspring and case-control data for male offspring, denoted by MLR XCII . Extensive simulation studies are carried out to investigate the type I error rate and the test power of the proposed MLR XCII . Simulation results demonstrate that the proposed test controls the type I error rate well andis more powerful than the existing method when imprinting effects exist. The proposed MLR XCII test is valid and powerful in genetic association studies on X-chromosome for qualitative traits and thus is recommended in practice.
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    • Publication Date:
      Date Created: 20191127 Date Completed: 20200406 Latest Revision: 20200408
    • Publication Date:
      20240829
    • Accession Number:
      31767819