X-inactivation informs variance-based testing for X-linked association of a quantitative trait.

ABSTRACT:

Background

The X chromosome plays an important role in human diseases and traits. However, few X-linked associations have been reported in genome-wide association studies, partly due to analytical complications and low statistical power.

Results

In this study, we propose tests of X-linked association that capitalize on variance heterogeneity caused by various factors, predominantly the process of X-inactivation. In the presence of X-inactivation, the expression of one copy of the chromosome is randomly silenced. Due to the consequent elevated randomness of expressed variants, females that are heterozygotes for a quantitative trait locus might exhibit higher phenotypic variance for that trait. We propose three tests that build on this phenomenon: 1) A test for inflated varian

SUBMITTER: Ma L 

PROVIDER: S-EPMC4381508 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature