| 1. |
- Hibar, Derrek P., et al.
(author)
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Novel genetic loci associated with hippocampal volume
- 2017
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Journal article (peer-reviewed)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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| 2. |
- Schijven, Dick, et al.
(author)
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Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium
- 2023
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In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences (PNAS). - 0027-8424 .- 1091-6490. ; 120:14
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Journal article (peer-reviewed)abstract
- Left-right asymmetry is an important organizing feature of the healthy brain that may be altered in schizophrenia, but most studies have used relatively small samples and heterogeneous approaches, resulting in equivocal findings. We carried out the largest case-control study of structural brain asymmetries in schizophrenia, with MRI data from 5,080 affected individuals and 6,015 controls across 46 datasets, using a single image analysis protocol. Asymmetry indexes were calculated for global and regional cortical thickness, surface area, and subcortical volume measures. Differences of asymmetry were calculated between affected individuals and controls per dataset, and effect sizes were meta-analyzed across datasets. Small average case-control differences were observed for thickness asymmetries of the rostral anterior cingulate and the middle temporal gyrus, both driven by thinner left-hemispheric cortices in schizophrenia. Analyses of these asymmetries with respect to the use of antipsychotic medication and other clinical variables did not show any significant associations. Assessment of age- and sex-specific effects revealed a stronger average leftward asymmetry of pallidum volume between older cases and controls. Case-control differences in a multivariate context were assessed in a subset of the data (N = 2,029), which revealed that 7% of the variance across all structural asymmetries was explained by case-control status. Subtle case-control differences of brain macrostructural asymmetry may reflect differences at the molecular, cytoarchitectonic, or circuit levels that have functional relevance for the disorder. Reduced left middle temporal cortical thickness is consistent with altered left-hemisphere language network organization in schizophrenia.
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| 3. |
- Ura, Ryota, et al.
(author)
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Detections of [C ii] 158 mu m and [O iii] 88 mu m in a Local Lyman Continuum Emitter, Mrk 54, and Its Implications to High-redshift ALMA Studies*
- 2023
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In: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 948:1
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Journal article (peer-reviewed)abstract
- We present integral field, far-infrared (FIR) spectroscopy of Mrk 54, a local Lyman continuum emitter, obtained with FIFI-LS on the Stratospheric Observatory for Infrared Astronomy. This is only the second time, after Haro 11, that [C ii] 158 mu m and [O iii] 88 mu m spectroscopy of the known LCEs have been obtained. We find that Mrk 54 has a strong [C ii] emission that accounts for similar to 1% of the total FIR luminosity, whereas it has only moderate [O iii] emission, resulting in the low [O iii]/[C ii] luminosity ratio of 0.22 +/- 0.06. In order to investigate whether [O iii]/[C ii] is a useful tracer of f (esc) (LyC escape fraction), we examine the correlations of [O iii]/[C ii] and (i) the optical line ratio of O-32 equivalent to [O iii] 5007 angstrom/[O ii] 3727 angstrom, (ii) specific star formation rate, (iii) [O iii] 88 mu m/[O i] 63 mu m ratio, (iv) gas-phase metallicity, and (v) dust temperature based on a combined sample of Mrk 54 and the literature data from the Herschel Dwarf Galaxy Survey and the LITTLE THINGS Survey. We find that galaxies with high [O iii]/[C ii] luminosity ratios could be the result of high ionization (traced by O-32), bursty star formation, high ionized-to-neutral gas volume filling factors (traced by [O iii] 88 mu m/[O i] 63 mu m), and low gas-phase metallicities, which is in agreement with theoretical predictions. We present an empirical relation between the [O iii]/[C ii] ratio and f (esc) based on the combination of the [O iii]/[C ii] and O-32 correlation, and the known relation between O-32 and f (esc). The relation implies that high-redshift galaxies with high [O iii]/[C ii] ratios revealed by the Atacama Large Millimeter/submillimeter Array may have f (esc) greater than or similar to 0.1, significantly contributing to the cosmic reionization.
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