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Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls.
Principal findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10−6) and 14 (IGHV1-67 p = 7.9×10−8) which indexed novel susceptibility loci.
Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
Sea pens (Cnidaria: Anthozoa: Pennatulacea) constitute a distinctive group of colonial marine invertebrates. They inhabit the world`s oceans, from shallow to deep waters. Studies about this group in Argentina are scarce, and no species have been described in the area in over a decade. Based on samples collected in Mar del Plata Submarine Canyon at about 3000 m deep we describe a new species of sea pen, Umbellula pomona Risaro, Williams & Lauretta sp. nov. This is a spiculate Umbellula that differs from other species of Umbellula with sclerites, by the number, development and distribution of the autozooids in its terminal cluster, as well as the shape of its axis. Molecular data also distinguishes it from other known species. Of the forty-three described species approximately ten are considered valid for the genus Umbellula, four of them are registered for the South Atlantic Ocean and only three are described for the Antarctic region. Since sampling efforts in this area have been scarce, the number of species of sea pens from the region is likely to increase substantially in the coming years.
The description in 1891 of the sea pen genus Gyrophyllum Studer, 1891 and also the type species G. hirondellei Studer, 1891 was based on a single colony collected in the Azores Archipelago. During the 19th and 20th centuries, the family placement of this genus became controversial as the set of morphological features present in Gyrophyllum could justify its assignation to both the families Pennatulidae Ehrenberg, 1834 and Pteroeididae Kölliker, 1880. Deliberations over this intermediate set of characters finally ended in the reunification of the genera and species of both families under Pennatulidae by principle of priority. The use of molecular sources of information based on a series of sequencing techniques presents a different but promising phylogenetic scenario in order to go further in the understanding of pennatulacean systematics. In this paper, a complementary morphological and molecular study (multiloci sequences with three mitochondrial and one nuclear markers) based mainly on newly collected material is carried out. This study re-confirms from a molecular point of view previously published results that indicate the position of Gyrophyllum as being distant from Pennatula Linnaeus, 1758 and Pteroeides Herklots, 1858 (type genera of the families Pennatulidae and Pteroeididae, respectively). This fact together with the results of a detailed morphological examination strongly supports the placement of the enigmatic genus Gyrophyllum in a separate family: Gyrophyllidae fam. nov. and resolves the nomenclatural uncertainty at family level for this genus. Moreover, the characters previously considered useful in the distinction of the two currently recognised species G. hirondellei in the Atlantic and G. sibogae Hickson, 1916 in the Indo-western Pacific are revisited.