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- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 3. |
- Ortiz, MV, et al.
(författare)
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[Barriers in access to legal abortion in the public health system in two Argentine jurisdictions: Rosario and Autonomous City of Buenos Aires, 2019-2020]
- 2022
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Ingår i: Salud colectiva. - : Universidad Nacional de Lanus. - 1851-8265 .- 1669-2381. ; 18, s. e4059-
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Tidskriftsartikel (refereegranskat)abstract
- En las últimas décadas, en la Argentina sucedieron hechos determinantes en el contexto político y social con respecto al aborto, que culminaron con la aprobación de la Ley de Interrupción Voluntaria del Embarazo (IVE) en diciembre de 2020. El objetivo de este artículo es explorar las principales barreras que enfrentaron las mujeres en el acceso al aborto legal en el sistema público de salud de dos jurisdicciones de Argentina, Rosario y Ciudad Autónoma de Buenos Aires, en los años 2019 y 2020. A partir de una adaptación del modelo de las tres demoras, se realizaron encuestas y entrevistas semiestructuradas a 117 mujeres. Las participantes reportaron dificultades para acceder a información sobre lugares y personas donde recurrir para acceder un aborto. La mayoría de las participantes respondió que las personas gestantes no cuentan con información sobre la legalidad del aborto. Si bien la mayoría reportó haber tenido una buena experiencia con los servicios de salud, también identificaron algunas barreras administrativas e institucionales.
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| 5. |
- Yang, Weizhao, et al.
(författare)
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Population Genomics of Wall Lizards Reflects the Dynamic History of the Mediterranean Basin
- 2022
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Ingår i: Molecular biology and evolution. - : Oxford University Press (OUP). - 0737-4038 .- 1537-1719. ; 39:1
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Tidskriftsartikel (refereegranskat)abstract
- The Mediterranean Basin has experienced extensive change in geology and climate over the past six million years. Yet, the relative importance of key geological events for the distribution and genetic structure of the Mediterranean fauna remains poorly understood. Here, we use population genomic and phylogenomic analyses to establish the evolutionary history and genetic structure of common wall lizards (Podarcis muralis). This species is particularly informative because, in contrast to other Mediterranean lizards, it is widespread across the Iberian, Italian, and Balkan Peninsulas, and in extra-Mediterranean regions. We found strong support for six major lineages within P. muralis, which were largely discordant with the phylogenetic relationship of mitochondrial DNA. The most recent common ancestor of extant P. muralis was likely distributed in the Italian Peninsula, and experienced an "Out-of-Italy" expansion following the Messinian salinity crisis (∼5 Mya), resulting in the differentiation into the extant lineages on the Iberian, Italian, and Balkan Peninsulas. Introgression analysis revealed that both inter- and intraspecific gene flows have been pervasive throughout the evolutionary history of P. muralis. For example, the Southern Italy lineage has a hybrid origin, formed through admixture between the Central Italy lineage and an ancient lineage that was the sister to all other P. muralis. More recent genetic differentiation is associated with the onset of the Quaternary glaciations, which influenced population dynamics and genetic diversity of contemporary lineages. These results demonstrate the pervasive role of Mediterranean geology and climate for the evolutionary history and population genetic structure of extant species.
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