Testing and estimation of X-chromosome SNP effects: Impact of model assumptions.

ABSTRACT: Interest in analyzing X chromosome single nucleotide polymorphisms (SNPs) is growing and several approaches have been proposed. Prior studies have compared power of different approaches, but bias and interpretation of coefficients have received less attention. We performed simulations to demonstrate the impact of X chromosome model assumptions on effect estimates. We investigated the coefficient biases of SNP and sex effects with commonly used models for X chromosome SNPs, including models with and without assumptions of X chromosome inactivation (XCI), and with and without SNP-sex interaction terms. Sex and SNP coefficient biases were observed when assumptions made about XCI and sex differences in SNP effect in the analysis model were inconsistent with the data-generating model. However,

SUBMITTER: Song Y 

PROVIDER: S-EPMC8453908 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature