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1.
Cell ; 185(11): 1842-1859.e18, 2022 05 26.
Artículo en Inglés | MEDLINE | ID: mdl-35561686

RESUMEN

The precise genetic origins of the first Neolithic farming populations in Europe and Southwest Asia, as well as the processes and the timing of their differentiation, remain largely unknown. Demogenomic modeling of high-quality ancient genomes reveals that the early farmers of Anatolia and Europe emerged from a multiphase mixing of a Southwest Asian population with a strongly bottlenecked western hunter-gatherer population after the last glacial maximum. Moreover, the ancestors of the first farmers of Europe and Anatolia went through a period of extreme genetic drift during their westward range expansion, contributing highly to their genetic distinctiveness. This modeling elucidates the demographic processes at the root of the Neolithic transition and leads to a spatial interpretation of the population history of Southwest Asia and Europe during the late Pleistocene and early Holocene.


Asunto(s)
Agricultores , Genoma , Agricultura , ADN Mitocondrial/genética , Europa (Continente) , Flujo Genético , Genómica , Historia Antigua , Migración Humana , Humanos
2.
Ann Neurol ; 94(6): 1080-1085, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37753809

RESUMEN

The minor allele of the genetic variant rs10191329 in the DYSF-ZNF638 locus is associated with unfavorable long-term clinical outcomes in multiple sclerosis patients. We investigated if rs10191329 is associated with brain atrophy measured by magnetic resonance imaging in a discovery cohort of 748 and a replication cohort of 360 people with relapsing multiple sclerosis. We observed an association with 28% more brain atrophy per rs10191329*A allele. Our results encourage stratification for rs10191329 in clinical trials. Unraveling the underlying mechanisms may enhance our understanding of pathophysiology and identify treatment targets. ANN NEUROL 2023;94:1080-1085.


Asunto(s)
Enfermedades del Sistema Nervioso Central , Esclerosis Múltiple , Enfermedades Neurodegenerativas , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/genética , Esclerosis Múltiple/patología , Encéfalo/patología , Imagen por Resonancia Magnética/métodos , Enfermedades Neurodegenerativas/patología , Atrofia/patología
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