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Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium
(2017)
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 22 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CACNA1B, TUBBP5, PLCB3, PRDX5, KCNK4, AP001453.3, TRPT1, FKBP2, DNAJC4, RASGRP1, FURIN, FES, YWHAE, DPH1, GSDMB, MED24, THRA, EEF1A2, and KCNQ2 in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance and transferability of BD polygenic risk scores across ancestrally diverse populations, and present a high-throughput fine-mapping pipeline (https://github.com/mkoromina/SAFFARI).
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.
The rare spider species Agroeca dentigera Kulczyński, 1913 (Liocranidae) and Entelecara omissa O. P.-Cambridge, 1902 (Linyphiidae), have been found in a small coastal freshwater fen in Lomma (55°42'N 13°4'E), north of Malmö in Scania in southernmost Sweden. A. dentigera was also found on a salt water meadow south of Malmö. Both species have been found only in a few wet localities in Europe. Entelecara depilata Tullgren, 1955, is a junior synonym of Entelecara omissa O. P.-Cambridge, 1902, new synonymy.
The distribution and habitat of Pocadicnemis pumila and P. juncea (Araneae, Linyphiidae) in Sweden
(1995)
Two species of the genus Pocadicnemis (Araneae, Linyphiidae), P. pumila (Blackwall) and P. juncea (Locket & Millidge) have been reported from Scandinavia. In order to find out the distribution and differences in the habitat, all specimens of Pocadicnemis from the author's collection, the collection of Sven Almquist, the Swedish Museum of Natural History (including the collection of Tullgren), and the Zoological Museum of Lund have been checked.