Polimorfismos

Variantes y asociaciones: enfermedad renal, leucemia, cáncer de pulmón, Alzheimer, hepatitis C

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– Genome-wide association studies identify the role of caspase-9 in kidney disease
– Genome-wide association study identifies susceptibility loci for acute myeloid leukemia
– Identification of genetic variations associated with drug resistance in non-small cell lung cancer patients undergoing systemic treatment
– Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics
– Genome-wide association study reveals genetic variants associated with HIV-1C infection in a Botswana study population

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Polimorfismos, variantes y mutaciones: depresión, alcoholismo, discapacidad intelectual, muerte súbita, menopausia

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– Association study of six candidate genes with major depressive disorder in the North-Western population of Pakistan
– Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases
– Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
– PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
– Genomic analysis identifies variants that can predict the timing of menopause

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Genes en las demencias neurodegenerativas

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Al menos un tercio de nuevas variantes génicas patogénicas o probablemente patogénicas fueron encontradas en un estudio en pacientes chinos con enfermedad de Alzheimer, demencia frontotemporal o demencia con cuerpos de Lewis. Los detalles aparecen en Bin J, Hui L, Lina G, Xuewen X, Xinxin L, Yafang Z, et al. The role of genetics in neurodegenerative dementia: a large cohort study in South China. npj Genomic Medicine 2021;6:69.

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Covid-19: más sobre influencias genéticas

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Tres metanálisis de estudios de asociación de genoma completo, que consideraron 49562 pacientes de 19 países, encontraron 13 loci relacionados con la infección y formas graves de la covid-19. Otros elementos son presentados en COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19. Nature. 2021; https://doi.org/10.1038/s41586-021-03767-x.

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Polimorfismos, variantes, mutaciones: migraña, cardiomiopatía, epilepsia

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– New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis
– International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
– CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

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Polimorfismos, variantes, mutaciones: enfermedades neurodegenerativas

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– Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms
– Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
– Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
– Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
– Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

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Polimorfismos, variantes, mutaciones: lupus, polimicrogiria, arritmia, trombocitopenia

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– Global discovery of lupus genetic risk variant allelic enhancer activity
– De novo ATP1A3 variants cause polymicrogyria
– Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study
– Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

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Lo más relevante del 2020 en medicina genómica

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Un panel de expertos ha propuesto una selección de los hechos más significativos en relación con la medicina genómica durante el año 2020: farmacogenética, diagnóstico prenatal, síndrome del QT largo, diabetes tipo 1, entre otros. Lea los detalles en Manolio TA, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, et al. Genomic Medicine Year in Review: 2020. Am J Human Genetics, 2020;107(6):1007-1010.

 

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Farmacogenómica: implementación, retos y oportunidades

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– Considerations When Applying Pharmacogenomics to Your Practice
– Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics
– The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What’s next? An urgent clinical unmet need for patients
– Pharmacogenomic Biomarkers and Their Applications in Psychiatry
– Implementation and management outcomes of pharmacogenetic CYP2C19 testing for clopidogrel therapy in clinical practice
– Pharmacogenomics for Primary Care: An Overview
– Genome-wide analysis of therapeutic response uncovers molecular pathways governing tamoxifen resistance in ER+ breast cancer
– Effect of Pharmacogenetic Testing for Statin Myopathy Risk vs Usual Care on Blood Cholesterol. A Randomized Clinical Trial

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Proponen secuenciación en el laboratorio de Anatomía

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La secuenciación en el estudio de cadáveres en el laboratorio de Anatomía  reveló variantes asociadas a riesgo incrementado de enfermedades. La experiencia es descrita en Anandakrishnan R, Carpenetti TL, Samuel P, Wasko B, Johnson C, Smith C, et al. DNA sequencing of anatomy lab cadavers to provide hands-on precision medicine introduction to medical students. BMC Medical Education 2020;20:437.

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