A systematic review of analytical methods used in genetic association analysis of the X-chromosome

Abstract Genetic association studies have been very successful at elucidating the genetic background of many complex diseases/traits. However, the X-chromosome is often neglected in these studies because of technical difficulties and the fact that most tools only utilize genetic data from autosomes....

Full description

Saved in:
Bibliographic Details
Published in:Briefings in bioinformatics 2022-09, Vol.23 (5)
Main Authors: Keur, Nick, Ricaño-Ponce, Isis, Kumar, Vinod, Matzaraki, Vasiliki
Format: Article
Language:English
Subjects:
Analytical methods
Association analysis
Chromosomes
Chromosomes, Human, X - genetics
Female
Gene expression
Gene Frequency
Gene mapping
Genetic analysis
Genome-wide association studies
Genome-Wide Association Study - methods
Genomes
Humans
Inactivation
Male
Phenotype
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Review
Statistical analysis
Statistical tests
X Chromosome Inactivation
Citations: Items that this one cites
Items that cite this one
Online Access:Request full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Genetic association studies have been very successful at elucidating the genetic background of many complex diseases/traits. However, the X-chromosome is often neglected in these studies because of technical difficulties and the fact that most tools only utilize genetic data from autosomes. In this review, we aim to provide an overview of different practical approaches that are followed to incorporate the X-chromosome in association analysis, such as Genome-Wide Association Studies and Expression Quantitative Trait Loci Analysis. In general, the choice of which test statistics is most appropriate will depend on three main criteria: (1) the underlying X-inactivation model, (2) if Hardy–Weinberg equilibrium holds and sex-specific allele frequencies are expected and (3) whether adjustment for confounding variables is required. All in all, it is recommended that a combination of different association tests should be used for the analysis of X-chromosome.
ISSN:1467-5463
1477-4054
DOI:10.1093/bib/bbac287