A systematic review of analytical methods used in genetic association analysis of the X-chromosome
| Autor: | Nick Keur, Isis Ricaño-Ponce, Vinod Kumar, Vasiliki Matzaraki |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
X-chromosome
Male Chromosomes Human X Quantitative Trait Loci lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] eQTL Polymorphism Single Nucleotide association analysis Phenotype QUALITY-CONTROL MARKERS Gene Frequency X Chromosome Inactivation linear regression GWAS Humans INACTIVATION SEX Female X-inactivation GENOME-WIDE ASSOCIATION Molecular Biology Information Systems PACKAGE Genome-Wide Association Study |
| Zdroj: | Briefings in Bioinformatics, 23 Briefings in Bioinformatics, 23, 5 |
| ISSN: | 1467-5463 |
| Popis: | Contains fulltext : 286899.pdf (Publisher’s version ) (Open Access) 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. |
| Databáze: | OpenAIRE |
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