Un extenso estudio en familias de sujetos con trastornos del desarrollo ha identificado 94 genes muy afectados por mutaciones de novo. La frecuencia de estas enfermedades ha sido estimada en 1 por cada 213 a 448 nacimientos, de acuerdo con Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017; doi:10.1038/nature21062.
Filed under Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
La propuesta de emplear familiares en estudios de asociación genética para enfermedades poco frecuentes, estrategia denominada GWAX (del inglés genome-wide association study by proxy) fue evaluada en integrantes del biobanco del Reino Unido. La identificación de nuevos loci para la enfermedades de Alzheimer, arterial coronaria y la diabetes mellitus tipo 2 son hallazgos develados en Liu JZ, Erlich Y, Pickrell JK. Case–control association mapping by proxy using family history of disease. Nature Genetics 2017; doi:10.1038/ng.3766.
Filed under Cardiopatías, Diagnóstico, Polimorfismos by on . Comment.
La historia evolutiva, las migraciones y la adaptación de los grupos humanos en las áreas de asentamiento en el planeta pueden ser reveladas a través del análisis de los genomas de las comunidades antiguas y modernas. Así se presenta en Nielsen R, Akey JM, Jakobsson M, Pritchard JK, Tishkoff S, Willerslev E. Tracing the peopling of the world through genomics. Nature 2017;541:302–310.
Filed under Polimorfismos by on . Comment.
– Cyclin D1 G870A polymorphism: Association with uterine leiomyoma risk and in silico analysis
– Variants in ANGPTL4 and the Risk of Coronary Artery Disease
– El polimorfismo (CAG)n del gen ATXN2, nuevo marcador de susceptibilidad para diabetes mellitus tipo 2
– Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
– Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders
– Activating NOTCH1 Mutations Define a Distinct Subgroup of Patients With Adenoid Cystic Carcinoma Who Have Poor Prognosis, Propensity to Bone and Liver Metastasis, and Potential Responsiveness to Notch1 Inhibitors
– Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment
Filed under Diagnóstico, Genómica, Medicina personalizada, Polimorfismos by on . Comment.
– A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
– Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
– New insights into the generation and role of de novo mutations in health and disease
– Characterizing the morbid genome of ciliopathies
– Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
– Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
Filed under Defectos congénitos, Diagnóstico, Genómica, Medicina personalizada, Polimorfismos by on . Comment.
La identificación de rasgos farmacogenéticos en individuos cuyo genoma es estudiado por otras causas puede requerir la información oportuna sobre los riesgos en la terapéutica administrada. El tema es abordado en Lee EMJ, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, et al. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. Genet Med 2016;18(12):1303–1307.
Filed under Bioética, Diagnóstico, Farmacogenómica, Medicina personalizada, Polimorfismos, Tratamientos by on . Comment.
– Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
– KLB is associated with alcohol drinking, and its gene product ß-Klotho is necessary for FGF21 regulation of alcohol preference
– RIT1: un nuevo gen causal del síndrome de Noonan
– Titin-truncating variants affect heart function in disease cohorts and the general population
– Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes
Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
– MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
– Genome-wide associations for birth weight and correlations with adult disease
– Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality
– Genome-wide analysis identifies 12 loci influencing human reproductive behavior
– Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Polimorfismos by on . Comment.
Las variaciones en la expresión génica en 19 regiones cerebrales han aclarado que los cambios moleculares en la enfermedad de Alzheimer comienzan tempranamente en la afección y ubican a los giros del lóbulo temporal con las mayores y más precoces alteraciones. Así se publica en Wang M, Roussos P, McKenzie A, Zhou X, Kajiwara Y, Brennand KJ, et al. Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease. Genome Medicine 2016;8:104.
Filed under Neurología, Polimorfismos by on . Comment.
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
The Contribution of Mosaic Variants to Autism Spectrum Disorder
The Role of PIEZO2 in Human Mechanosensation
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene
Genome-wide associations for birth weight and correlations with adult disease
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Disponible la versión digital del libro "Cuba indígena hoy: rostros y ADN"
(Nota en CubaDebate)
