– Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
– Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
– Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Filed under Polimorfismos by on . Comment.
La secuenciación del exoma de 124 tríos de niños fallecidos por muerte súbita y ambos padres, condujo a identificar mutaciones de novo en genes asociados a funciones cardiacas o neurológicas. El reporte aparece en Halvorsen M, Gould L, Wang X, Grant G, Moya R, Rabin R, et al. De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation. PNAS December 28, 2021;118(52):e2115140118.
Filed under Cardiopatías, Diagnóstico, Neurología, Polimorfismos by on . Comment.
– 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
Filed under Cáncer, Patógenos, Polimorfismos by on . Comment.
– 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
Filed under Diagnóstico, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
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.
Filed under Diagnóstico, Neurología, Polimorfismos by on . Comment.
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.
Filed under Diagnóstico, Patógenos, Polimorfismos by on . Comment.
– 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
Filed under Cardiopatías, Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
– 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
Filed under Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
– 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
Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Polimorfismos by on . Comment.
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.
Filed under Genómica, Medicina personalizada, Polimorfismos by on . Comment.
Disponible la versión digital del libro "Cuba indígena hoy: rostros y ADN"
(Nota en CubaDebate)
