The X chromosome lags behind autosomal chromosomes in genome-wide association study (GWAS) findings. Indeed, the X chromosome is commonly excluded from GWAS analyses despite being assayed on all current GWAS microarray platforms. This raises the question: why are so few hits reported on the X chromosome? This commentary aims to examine this question through review of the current X chromosome results in the National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies (NHGRI GWAS Catalog). It will also investigate commonly cited reasons for exclusion of the X chromosome from GWAS and review the tools currently available for X chromosome analysis. It will conclude with recommendations for incorporating X chromosome analyses in future studies.
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http://dx.doi.org/10.1016/j.ajhg.2013.03.017 | DOI Listing |
Bioinform Adv
December 2024
Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, United States.
Motivation: The expansion of genetic association data from genome-wide association studies has increased the importance of methodologies like Polygenic Risk Scores (PRS) and Mendelian Randomization (MR) in genetic epidemiology. However, their application is often impeded by complex, multi-step workflows requiring specialized expertise and the use of disparate tools with varying data formatting requirements. Existing solutions are frequently standalone packages or command-line based-largely due to dependencies on tools like PLINK-limiting accessibility for researchers without computational experience.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Jiangxi Medical College, Nanchang University, Nanchang, China.
Multiple studies have suggested that psoriasis may increase the risk of atrial fibrillation (AF). However, the molecular and immune mechanisms underlying this association remain unclear. This study initially downloaded gene expression profiles for psoriasis and AF from the Gene Expression Omnibus database.
View Article and Find Full Text PDFMol Biol Evol
January 2025
Institut de Biologie, École Normale Supérieure, CNRS UMR 8197, Inserm U1024, PSL Research University, Paris, F-75005, France.
Modifiers of recombination rates have been described but the selective pressures acting on them and their effect on adaptation to novel environments remain unclear. We performed experimental evolution in the nematode Caenorhabditis elegans using alternative rec-1 alleles modifying the position of meiotic crossovers along chromosomes without detectable direct fitness effects. We show that adaptation to a novel environment is impaired by the allele that decreases recombination rates in the genomic regions containing fitness variation.
View Article and Find Full Text PDFInt Urol Nephrol
January 2025
Department of Nuclear Medicine, Linyi People's Hospital, Shandong Second Medical University, 27 Jiefang Road, Linyi, 276003, Shandong, China.
Purpose: The aim of our report was to recognize bladder cancer (BC)-specific serum exosome-derived long non-coding RNAs (lncRNAs) profile for early diagnosis of BC.
Methods: Potential BC-specific exosomal lncRNA indicators were discerned by genome-wide microarray profiling analysis of serum exosomes from 10 healthy participants and 10 early stage BC patients (Ta and T1), followed by multi-stage validation through quantitative real-time PCR (qRT-PCR) in BC cells, culture solution as well as 200 serum specimens and 50 tissue specimens from non-muscle-invasive bladder cancer (NMIBC) patients. The diagnostic panel was established using logistic regression and evaluated by receiver-operating characteristic (ROC) curve.
JAMA Psychiatry
January 2025
Max Planck Institute of Psychiatry, Munich, Germany.
Importance: As an accessible part of the central nervous system, the retina provides a unique window to study pathophysiological mechanisms of brain disorders in humans. Imaging and electrophysiological studies have revealed retinal alterations across several neuropsychiatric and neurological disorders, but it remains largely unclear which specific cell types and biological mechanisms are involved.
Objective: To determine whether specific retinal cell types are affected by genomic risk for neuropsychiatric and neurological disorders and to explore the mechanisms through which genomic risk converges in these cell types.
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