A robust test for X-chromosome genetic association accounting for X-chromosome inactivation and imprinting.

ABSTRACT: The X chromosome is known to play an important role in many sex-specific diseases. However, only a few single-nucleotide polymorphisms on the X chromosome have been found to be associated with diseases. Compared to the autosomes, conducting association tests on the X chromosome is more intractable due to the difference in the number of X chromosomes between females and males. On the other hand, X-chromosome inactivation takes place in female mammals, which is a phenomenon in which the expression of one copy of two X chromosomes in females is silenced in order to achieve the same gene expression level as that in males. In addition, imprinting effects may be related to certain diseases. Currently, there are some existing approaches taking X-chromosome inactivation into account when testing f

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC7132553 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature