Polimorfismos

Nuevas variantes de riesgo para el cáncer de pulmón en población cubana

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Entre otros polimorfismos estudiados, la asociación de rs25487 con el tabaquismo significó un riesgo mayor de cáncer de pulmón, mientras que rs11016879 aportó una supervivencia más alta a los cinco años. Así se lee en Reyes-Reyes E, Cuétara-Lugo E, Herrera-Isidrón JA, Pérez-Benítez M, González-Pérez I, Izquierdo-González M, et al. Polymorphisms in DNA repair related genes as risk factors for lung cancer in Cuban population: a case control study. BMC Cancer. 2025 Nov 5;25(1):1717.

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GWAS revela ocho subtipos genéticos de obesidad

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Un estudio de asociación de genoma completo (GWAS, por sus siglas en inglés) encontró 266 variantes que se agruparon en ocho subtipos genéticos de obesidad, con riesgos diferentes de comorbilidades cardiometabólicas. Lea al respecto en Chami N, Wang Z, Svenstrup V, Diez Obrero V, Hemerich D, Huang Y, et al. Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities. Nature Medicine, 2025; https://doi.org/10.1038/s41591-025-03931-0.

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Ser vegetariano puede tener bases genéticas

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Un estudio de asociación de genoma completo (GWAS, por sus siglas en inglés) ha encontrado al menos un polimorfismo y tres genes relevantes para la elección de una dieta vegetariana. Puede leer el reporte en Yaseen NR, Barnes CLK, Sun L, Takeda A, Rice JP. Genetics of vegetarianism: A genome-wide association study. PLoS ONE, 2023;18(10):e0291305.

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Identifican variantes genómicas de riesgo para glaucoma y cáncer colorrectal

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El análisis de una de las fuentes de variabilidad en el genoma humano, conocida como repeticiones en tándem de números variables (en inglés, variable numbers of tandem repeats, VNTRs), ha revelado la contribución de dos regiones no codificadoras en TMCO1 y EIF3H, que incrementan el riesgo de padecer glaucoma y cáncer colorrectal, respectivamente. Lea el reporte en Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA, et al. Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer. Cell, 31 July 2023; https://doi.org/10.1016/j.cell.2023.07.002.

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Variantes y polimorfismos: presión arterial, diverticulosis, tono de la voz, disección aórtica

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– Systematic characterization of regulatory variants of blood pressure genes. Cell Genomics, 2023; DOI:https://doi.org/10.1016/j.xgen.2023.100330.
– 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility. Cell Genomics, 2023; DOI: https://doi.org/10.1016/j.xgen.2023.100326.
– Sequence variants affecting voice pitch in humans. Science Advances, 2023;(9)23.
– Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation. Nature Genetics, 2023

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Diagnóstico genómico de enfermedades raras

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– Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
– Diagnostics for rare diseases
– Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
– Genetic association analysis of 77,539 genomes reveals rare disease etiologies

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Recomendaciones sobre riesgos genómico y poligénico

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– Returning integrated genomic risk and clinical recommendations: The eMERGE study
– The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
– Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

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Farmacogenética: aspirina, esquizofrenia, farmacomicrobiómica, ansiedad, antidepresivos

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– Impact of pharmacogenetics on aspirin resistance: a systematic review
– The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
– Integration of pharmacogenomic and pharmacomicrobiomic data for personalized medicine
– Towards precision medicine for anxiety disorders: objective assessment, risk prediction, pharmacogenomics, and repurposed drugs
– Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants

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Oportunidades y potencialidades de biobancos

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– Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. Cell Genomics, 2022;2(10):100192.
– Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases. Cell Genomics, 2022;2(10):100195.
– A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis. Cell Genomics, 2022;2(10):100190.
– Best practices for multi-ancestry, meta-analytic transcriptome-wide association studies: Lessons from the Global Biobank Meta-analysis Initiative. Cell Genomics, 2022;2(10):100180.
– Genome-wide study on 72,298 individuals in Korean biobank data for 76 traits. Cell Genomics, 2022; DOI: https://doi.org/10.1016/j.xgen.2022.100189.

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