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1.
Nat Genet ; 54(11): 1652-1663, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36280732

RESUMEN

Nonalcoholic fatty liver (NAFL) and its sequelae are growing health problems. We performed a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and integrated the findings with expression and proteomic data. For NAFL, we utilized 9,491 clinical cases and proton density fat fraction extracted from 36,116 liver magnetic resonance images. We identified 18 sequence variants associated with NAFL and 4 with cirrhosis, and found rare, protective, predicted loss-of-function variants in MTARC1 and GPAM, underscoring them as potential drug targets. We leveraged messenger RNA expression, splicing and predicted coding effects to identify 16 putative causal genes, of which many are implicated in lipid metabolism. We analyzed levels of 4,907 plasma proteins in 35,559 Icelanders and 1,459 proteins in 47,151 UK Biobank participants, identifying multiple proteins involved in disease pathogenesis. We show that proteomics can discriminate between NAFL and cirrhosis. The present study provides insights into the development of noninvasive evaluation of NAFL and new therapeutic options.


Asunto(s)
Neoplasias Hepáticas , Enfermedad del Hígado Graso no Alcohólico , Humanos , Enfermedad del Hígado Graso no Alcohólico/genética , Proteómica , Estudio de Asociación del Genoma Completo , Hígado/metabolismo , Cirrosis Hepática/genética , Cirrosis Hepática/metabolismo , Cirrosis Hepática/patología , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo
2.
Biodivers Data J ; 8: e54812, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32733143

RESUMEN

BACKGROUND: The process of ecosystem development over time that takes place on a new substrate devoid of biological activity (such as, for example, lava) is called primary succession. Research on primary succession is not easy, as it is limited to rare occasions when a piece of land totally lacking in any pre-existing life occurs. The emergence of volcanic islands is such an occasion; it is a unique event that allows a natural experiment in the study of colonisation processes and primary succession. Surtsey (located in the Vestmannaeyar archipelago off the southern coast of Iceland) is an iconic example of a place where primary succession has been studied for decades and where human disturbance has been minimised due to significant geographic isolation and early protection efforts. Here, we present a georeferenced dataset of vacular plant occurrences collected during the field studies carried out on Surtsey Island during the first three decades of its existence. NEW INFORMATION: To date, no dataset containing plant distribution data documenting the process of early stages of colonisation of Surtsey has been published. What is more, to our knowledge, there is no other dataset that can be compared with our Surtsey data that is readily available for researchers working on plant colonisation dynamics and primary succession processes. Here, we present a complete, geo-referenced dataset of all plant occurrences (10,094 in total) collected on Surtsey between 1965 and 1990.

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