A robust and powerful test for case-control genetic association study on X chromosome

Statistical Methods in Medical Research
Peng WangJi-Yuan Zhou

Abstract

Hundreds of genome-wide association studies were conducted to map the disease genes on autosomes in human beings. It is known that many complex diseases are sex-determined and X chromosome is expected to play an important role. However, only a few single-nucleotide polymorphisms on X chromosome were found to be significantly associated with the diseases under study. On the other hand, to balance the genetic effect between two sexes, X chromosome inactivation occurs in most of X-linked genes by silencing one copy of two X chromosomes in females and dosage compensation is achieved. A few association studies on X chromosome incorporated the information on dosage compensation. However, some of them require the assumption of Hardy-Weinberg equilibrium and some need to specify the underlying genetic model. Therefore, in this article, we propose a novel method for association by taking account of different dosage compensation patterns. The proposed test is a robust approach because it requires neither specifying the underlying genetic models nor the assumption of Hardy-Weinberg equilibrium. Further, the proposed method allows for different deviations from Hardy-Weinberg equilibrium between cases and controls. Simulation results demons...Continue Reading

References

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Nov 27, 2009·Genome Medicine·David G Clayton
Feb 18, 2011·Human Heredity·Christina LoleyInke R König
Aug 6, 2011·Genetic Epidemiology·Peter F Hickey, Melanie Bahlo
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Methods Mentioned

BETA
genotyping

Software Mentioned

XWAS
Xcat
R
Zmax

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