Genetics & Epigenetics

Polygenic Scores May Improve Accuracy of ADHD Diagnosis when Combined with Standard Diagnostic Scales (2024 Study)

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The ADHD polygenic score (PGS) adds slight yet statistically significant value to existing ADHD diagnostic tools, though it currently lacks clinical utility. Highlights: Study Overview: Researchers tested if adding a genetic score (ADHD PGS) to traditional diagnostic tools (ASRS and WURS scales) and family history could better predict ADHD. Improvement in Diagnosis: Adding the ADHD …

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Micro & Long Non-Coding RNAs in Blood Samples May Accurately Diagnose Depression & Monitor Treatment Responses (2024 Study)

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The study suggests that microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) in blood and brain tissues can serve as significant biomarkers for diagnosing and monitoring major depressive disorder (MDD). Highlights: Diagnostic Potential: miRNAs and lncRNAs show significant variations in depressed patients, indicating their potential as diagnostic biomarkers for MDD. Treatment Monitoring: Changes in miRNA levels …

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Autism Genetics & Immune Cell Activity: Causal Biomarkers Identified (2024 Study)

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A study reported significant causal relationships between specific immune cell subtypes and autism spectrum disorder (ASD), highlighting 26 genetic correlations and potential biomarkers for early detection and treatment. Highlights: Significant Genetic Correlations: The study identifies 26 potential correlations between genetic predispositions in immune cell types (immunophenotypes) and the risk of developing ASD. Bi-Directional Analysis Results: …

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Epigenetic Biomarkers Predict Delirium Diagnosis: DNA Methylation Patterns (2024 Study)

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Epigenetic markers, specifically DNA methylation (DNAm) differences, show promise as diagnostic tools for detecting delirium, including post-operative delirium (POD), across multiple patient cohorts. Highlights: Significant DNAm Differences: Analysis of blood samples from four independent cohorts identified significant DNAm differences between patients with and without delirium, with 11 of the top 13 CpG sites showing consistent …

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Omega-3 Fatty Acids & Depression vs. Genetics: EPA-to-DHA Ratio (2024 Study)

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Omega-3 fatty acids, particularly eicosapentaenoic acid (EPA), may reduce the risk of major depressive disorder (MDD), but causality remains uncertain due to potential pleiotropic mechanisms. Highlights: Genetic Evidence for Omega-3 & Depression: The study used two-sample Mendelian randomization to investigate the causality between genetically predicted omega-3 fatty acid levels and major depression, finding a protective …

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Epigenetic Biosignature of First-Episode Schizophrenia Identified via Machine Learning (2024)

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A new study uses AutoML and blood DNA methylation data to identify novel gene biomarkers for diagnosing schizophrenia (SCZ) with high accuracy. Highlights: Biomarker Discovery: AutoML identified three schizophrenia-specific gene methylation biomarkers: IGF2BP1, CENPI, and PSME4. Methylation Analysis: IGF2BP1 showed higher methylation and PSME4 showed lower methylation in SCZ patients compared to healthy controls, while …

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Eczema & Psychiatric Disorders: Bidirectional Links Discovered in Genetic Analysis (2024)

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TLDR: A recent study explored the potential causal relationship between atopic dermatitis (AD) a.k.a. eczema and various psychiatric disorders – finding bidirectional links. Highlights: Data from over 860,000 individuals were analyzed Atopic dermatitis (eczema) increased risk of ADHD & ASD ADHD, anorexia nervosa (AN), bipolar disorder (BD) increased the risk of developing atopic dermatitis (eczema) …

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Sleep Disturbances in 22q11.2 Deletion Syndrome: What You Should Know

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22q11.2 deletion syndrome (22q11.2DS) is a genetic condition caused by a missing chunk of chromosome 22. It comes with high rates of neurodevelopmental and psychiatric problems. Sleep issues are very common in 22q11.2DS across the lifespan. Key Facts: Sleep problems occur in up to 91% of those with 22q11.2DS and involve difficulties falling asleep, staying …

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Optimizing Escitalopram (Lexapro) Dosage with CYP2C19 Enzyme Genetics & Body Weight

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Researchers have made strides towards enabling personalized dosing for the commonly prescribed antidepressant escitalopram. Using robust clinical trial data, they developed an innovative population pharmacokinetics model that elucidates the impact of patient genetics and physiology. Key Facts: Model based on data from over 170 healthy Chinese adults receiving single escitalopram doses Identified CYP2C19 liver enzyme …

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