Association testing to detect gene-gene interactions on sex chromosomes in trio data

Yeonok Lee, Debashis Ghosh, Yu Zhang

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Autism Spectrum Disorder (ASD) occurs more often among males than females in a 4:1 ratio. Among theories used to explain the causes of ASD, the X chromosome and the Y chromosome theories attribute ASD to the X-linked mutation and the male-limited gene expressions on the Y chromosome, respectively. Despite the rationale of the theory, studies have failed to attribute the sex-biased ratio to the significant linkage or association on the regions of interest on X chromosome. We further study the gender biased ratio by examining the possible interaction effects between two genes in the sex chromosomes. We propose a logistic regression model with mixed effects to detect gene-gene interactions on sex chromosomes. We investigated the power and type I error rates of the approach for a range of minor allele frequencies and varying linkage disequilibrium between markers and QTLs. We also evaluated the robustness of the model to population stratification. We applied the model to a trio-family data set with an ASD affected male child to study gene-gene interactions on sex chromosomes.

Original languageEnglish (US)
Article numberArticle 239
JournalFrontiers in Genetics
Volume4
Issue numberNOV
DOIs
StatePublished - Dec 18 2013

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Sex Chromosomes
Genes
Y Chromosome
X Chromosome
Logistic Models
Sex Ratio
Linkage Disequilibrium
Gene Frequency
Gene Expression
Mutation
Autism Spectrum Disorder
Population

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

Cite this

Lee, Yeonok ; Ghosh, Debashis ; Zhang, Yu. / Association testing to detect gene-gene interactions on sex chromosomes in trio data. In: Frontiers in Genetics. 2013 ; Vol. 4, No. NOV.
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Association testing to detect gene-gene interactions on sex chromosomes in trio data. / Lee, Yeonok; Ghosh, Debashis; Zhang, Yu.

In: Frontiers in Genetics, Vol. 4, No. NOV, Article 239, 18.12.2013.

Research output: Contribution to journalArticle

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