Abstract

The X chromosome is understood to play a crucial role in many sex-specific diseases. However, only a couple of single-nucleotide polymorphisms on the X chromosome are found to be related to diseases. Compared to the autosomes, conducting association tests on the X chromosome is more intractable thanks to the difference within the number of X chromosomes between females and males. On the opposite hand, X-chromosome inactivation takes place in female mammals, which may be a phenomenon during which the expression of 1 copy of two X chromosomes in females is silenced so as to realize an equivalent organic phenomenon level as that in males. additionally , imprinting effects could also be associated with certain diseases. Currently, there are some existing approaches taking X-chromosome inactivation under consideration when testing for associations on the X chromosome . However, none of them allows for imprinting effects. Therefore, during this paper, we propose a strong test, ZXCII, which accounts for both X-chromosome inactivation and imprinting effects without requiring specifying the genetic models beforehand . Simulation studies are conducted so as to research the validity and performance of ZXCII under various scenarios of various parameter values. The simulation results show that ZXCII controls the sort I error rate well when there’s no association. Furthermore, with regards to power, ZXCII is strong altogether of the situations considered and usually outperforms most of the prevailing methods within the presence of imprinting effects, especially under complete imprinting effects.