Exonic mutations in cell –cell adhesion may contribute to CADASIL-related CSVD pathology
This study identified a novel process that may be playing a role in the vascular damage related to CADASIL-related CSVD and implicatedn = 15 genes in playing a role in the disease. (Source: Human Genetics)
Source: Human Genetics - July 8, 2023 Category: Genetics & Stem Cells Source Type: research
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk
AbstractComorbid conditions can be driven by underlying pleiotropic and causal mechanisms that can provide insights into shared molecular and biological processes contributing to disease risk. Endometriosis is a chronic condition affecting one in nine women of reproductive age and poses many challenges including lengthy diagnostic delays and limited treatment efficacy owing to poor understanding of disease aetiology. To shed light on the underlying biological mechanisms and to identify potential risk factors, we examine the epidemiological and genomic relationship between endometriosis and its comorbidities. In the UK Biob...
Source: Human Genetics - July 6, 2023 Category: Genetics & Stem Cells Source Type: research
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
(Source: Human Genetics)
Source: Human Genetics - July 4, 2023 Category: Genetics & Stem Cells Source Type: research
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
AbstractHereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive dysfunction of corticospinal motor neurons. Mutations in Atlastin1/Spg3, a small GTPase required for membrane fusion in the endoplasmic reticulum, are responsible for 10% of HSPs. Patients with the same Atlastin1/Spg3 mutation present high variability in age at onset and severity, suggesting a fundamental role of the environment and genetic background. Here, we used aDrosophila model of HSPs to identify genetic modifiers of decreased locomotion associated withatlastin knockdown in motor neurons. First, we s...
Source: Human Genetics - June 27, 2023 Category: Genetics & Stem Cells Source Type: research
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context
AbstractRisk prediction models hold great promise to reduce the impact of cancer in society through advanced warning of risk and improved preventative modalities. These models are evolving and becoming more complex, increasingly integrating genetic screening data and polygenic risk scores as well as calculating risk for multiple types of a disease. However, unclear regulatory compliance requirements applicable to these models raise significant legal uncertainty and new questions about the regulation of medical devices. This paper aims to address these novel regulatory questions by presenting an initial assessment of the le...
Source: Human Genetics - June 26, 2023 Category: Genetics & Stem Cells Source Type: research
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans
AbstractType 2 diabetes (T2D) is a critical risk factor for peripheral artery disease (PAD). However, the sex differences in genetic basis, causality, and underlying mechanisms of the two diseases are still unclear. Using sex-stratified and ethnic-based GWAS summary, we explored the genetic correlation and causal relationship between T2D and PAD in both ethnicities and sexes by linkage disequilibrium score regression, LAVA and six Mendelian Randomization approaches. We observed stronger genetic correlations between T2D and PAD in females than males in East Asians and Europeans. East Asian females exhibit higher causal effe...
Source: Human Genetics - June 21, 2023 Category: Genetics & Stem Cells Source Type: research
Population history modulates the fitness effects of Copy Number Variation in the Roma
AbstractWe provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from South Asia, the Middle East and Europe. Using CNV calling software for short-read sequence data, we identified 3171 deletions and 489 duplications. Taking into account the known population history of the Roma, as inferred from whole genome nucleotide variation, we could discern how this history has shaped CNV variation. As expected, patterns of deletion variation, but not duplication, in the Roma followed those obtained from single nucleotide polymorphisms (SNPs). Reduced effective population siz...
Source: Human Genetics - June 14, 2023 Category: Genetics & Stem Cells Source Type: research
Migraine, chronic kidney disease and kidney function: observational and genetic analyses
AbstractEpidemiological studies demonstrate an association between migraine and chronic kidney disease (CKD), while the genetic basis underlying the phenotypic association has not been investigated. We aimed to help avoid unnecessary interventions in individuals with migraine through the investigation of phenotypic and genetic relationships underlying migraine, CKD, and kidney function. We first evaluated phenotypic associations using observational data from UK Biobank (N = 255,896). We then investigated genetic relationships leveraging genomic data in European ancestry for migraine (Ncase/Ncontrol = 48,975/540,381...
Source: Human Genetics - June 12, 2023 Category: Genetics & Stem Cells Source Type: research
