Validity of European-Centric Cardiometabolic Polygenic Scores in Multi-Ancestry Populations

Medicine, Endocrinology, Cardiovascular System, Life Sciences, Genetics,
Polygenic scores   Cardiometabolic diseases   Genetic risk   Ancestry groups   Health disparities   UK Biobank  

Effectiveness of European-derived Cardiometabolic Polygenic Scores in Multi-ancestral Populations In recent years, Polygenic Scores (PGS) have received widespread attention as a tool for assessing individual genetic risk. However, most existing PGS are based on Genome-Wide Association Studies (GWAS) data from white European populations. This has le...

Somatic CAG Repeat Instability in Intermediate Alleles of the HTT Gene and its Potential Association with a Clinical Phenotype

Medicine, Neurology, Life Sciences, Cell Biology, Genetics,
Huntington Disease   CAG Repeat   Somatic Instability   Intermediate Alleles   Neurocognitive Symptoms  

Potential Association between Somatic CAG Repeat Instability in HTT Intermediate Alleles and Clinical Phenotype Research Background Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats (≥36 CAG repeats) in the HTT gene. Intermediate alleles (IAs) with 27-35 CAG repeats are generally not cons...

Clinical Impact of Preemptive Pharmacogenomic Testing on Antiplatelet Therapy in a Real-World Setting

Medicine, Infectious Diseases, Medical Laboratory Science, Neurology, Pharmacy, Cardiovascular System, Life Sciences, Immunology, Genetics,
pharmacogenomics   antiplatelet therapy   CYP2C19   acute coronary syndromes   percutaneous coronary interventions   clinical outcomes   healthcare utilization  

Clinical Impact of Pharmacogenomic Testing on Antiplatelet Therapy Background Pharmacogenomics (PGx) is changing the use of P2Y12 inhibitors (antiplatelet drugs), which are widely used in the treatment of acute coronary syndrome (ACS), neurovascular problems, and vascular diseases. Among them, clopidogrel is a commonly used P2Y12 inhibitor. This pr...

Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals

Medicine, Neurology, Life Sciences, Genetics,
Bryant-Li-Bhoj Syndrome   Phenotypic Spectrum   Neurodevelopmental Disorder   Neurodegenerative Disorder   H3.3  

Many Scientists Discover Expansion of Phenotypic Spectrum in Bryant-Li-Bhoj Syndrome Research Background Bryant-Li-Bhoj Syndrome (BLBS) was classified by OMIM in 2022 (OMIM: 619720, 619721), caused by germline variants in the H3.3 (H3F3A and H3F3B) genes. This syndrome is characterized by developmental delay/intellectual disability, craniofacial an...

Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Medicine, Neurology, Life Sciences, Biochemistry, Genetics,
Primary Familial Brain Calcification   Genetic Variants   5' UTR   Protein Expression   Reporter Assay   Pathogenic Variants   Genetic Diagnosis  

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

Utilizing a Yeast Genetic Model to Validate the Pathogenicity of ACTA2 Variants Associated with Aortic Aneurysms

Medicine, Cardiovascular System, Life Sciences, Genetics,
ACTA2 gene   aortic aneurysms   yeast genetic model   pathogenicity validation   cytoskeleton   protein  

Pathological Study of a New ACTA2 Mutation Causing Aortic Aneurysm: Validation Using a Yeast Model Research Background Thoracic aortic aneurysm and dissection (TAAD) is a potentially fatal vascular disease with mechanisms that are still not fully understood. The ACTA2 gene encodes α-smooth muscle actin, a key component of the vascular smooth muscle...