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- Bellenguez, C, et al.
(författare)
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New insights into the genetic etiology of Alzheimer's disease and related dementias
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
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Tidskriftsartikel (refereegranskat)abstract
- Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
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| 3. |
- O'Regan, Matt, et al.
(författare)
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Stratigraphic Occurrences of Sub-Polar Planktic Foraminifera in Pleistocene Sediments on the Lomonosov Ridge, Arctic Ocean
- 2019
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Ingår i: Frontiers in Earth Science. - : FRONTIERS MEDIA SA. - 2296-6463. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Turborotalita quinqueloba is a species of planktic foraminifera commonly found in the sub-polar North Atlantic along the pathway of Atlantic waters in the Nordic seas and sometimes even in the Arctic Ocean, although its occurrence there remains poorly understood. Existing data show that T. quinqueloba is scarce in Holocene sediments from the central Arctic but abundance levels increase in sediments from the last interglacial period [Marine isotope stage (MIS) 5, 71-120 ka] in cores off the northern coast of Greenland and the southern Mendeleev Ridge. Turborotalita also occurs in earlier Pleistocene interglacials in these regions, with a unique and widespread occurrence of the less known Turborotalita egelida morphotype, proposed as a biostratigraphic marker for MIS 11 (474-374 ka). Here we present results from six new sediment cores, extending from the central to western Lomonosov Ridge, that show a consistent Pleistocene stratigraphy over 575 km. Preliminary semi-quantitative assessments of planktic foraminifer abundance and assemblage composition in two of these records (LOMROG12-7PC and AO16-5PC) reveal two distinct stratigraphic horizons containing Turborotalita in MIS 5. Earlier occurrences in Pleistocene interglacials are recognized, but contain significantly fewer specimens and do not appear to be stratigraphically coeval in the studied sequences. In all instances, the Turborotalita specimens resemble the typical T. quinqueloba morphotype but are smaller (63-125 mu m), smooth-walled and lack the final thickened calcite layer common to adults of the species. These results extend the geographical range for T. quinqueloba in MIS 5 sediments of the Arctic Ocean and provide compelling evidence for recurrent invasions during Pleistocene interglacials.
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- Pan, Y. Y., et al.
(författare)
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The 20-million-year old lair of an ambush-predatory worm preserved in northeast Taiwan
- 2021
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- The feeding behavior of the giant ambush-predator "Bobbit worm" (Eunice aphroditois) is spectacular. They hide in their burrows until they explode upwards grabbing unsuspecting prey with a snap of their powerful jaws. The still living prey are then pulled into the sediment for consumption. Although predatory polychaetes have existed since the early Paleozoic, their bodies comprise mainly soft tissue, resulting in a very incomplete fossil record, and virtually nothing is known about their burrows and behavior beneath the seafloor. Here we use morphological, sedimentological, and geochemical data from Miocene strata in northeast Taiwan to erect a new ichnogenus, Pennichnus. This trace fossil consists of an up to 2 m long, 2-3 cm in diameter, L-shaped burrow with distinct feather-like structures around the upper shaft. A comparison of Pennichnus to biological analogs strongly suggests that this new ichnogenus is associated with ambush-predatory worms that lived about 20 million years ago.
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