Biological Insights From 108 Schizophrenia-Associated Genetic Loci
- S. Ripke, B. Neale, M. O’Donovan
- Psychology, BiologyNature
- 18 July 2014
Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
- S. Mallick, Heng Li, D. Reich
- BiologyNature
- 7 July 2016
It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Ancient human genomes suggest three ancestral populations for present-day Europeans
- Iosif Lazaridis, N. Patterson, J. Krause
- History, BiologyNature
- 23 December 2013
It is shown that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians; and early European farmers, who were mainly of Near Eastern origin but also harboured west Europeanhunter-gatherer related ancestry.
Genome-wide association study identifies five new schizophrenia loci
- S. Ripke, A. Sanders, P. Gejman
- PsychologyNature Genetics
- 1 October 2011
The role of common genetic variation in schizophrenia in a genome-wide association study of substantial size is examined, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia.
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
- G. Kirov, A. Pocklington, M. Owen
- Psychology, MedicineMolecular Psychiatry
- 15 November 2011
The data indicate that defects in NMDAR postsynaptic signalling and, possibly, ARC complexes, which are known to be important in synaptic plasticity and cognition, play a significant role in the pathogenesis of schizophrenia.
Rare chromosomal deletions and duplications increase risk of schizophrenia
- J. Stone, M. O’Donovan, K. Ardlie
- Psychology, MedicineNature
- 11 September 2008
A genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls provides strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome- wide and at specific loci.
Genetic Structure of Europeans: A View from the North–East
- M. Nelis, T. Esko, A. Metspalu
- BiologyPLoS ONE
- 8 May 2009
This analysis revealed that the genetic structure of the European population correlates closely with geography, and allows the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
Global diversity, population stratification, and selection of human copy-number variation
- P. Sudmant, S. Mallick, E. Eichler
- BiologyScience
- 11 September 2015
The selective constraints of deletions versus duplications were compared to understand population stratification in the context of the ancestral human genome and to assess differences in CNV load between African and non-African populations.
The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269
- G. Busby, F. Brisighelli, C. Capelli
- BiologyProceedings of the Royal Society B: Biological…
- 7 March 2012
Analysis of frequency patterns and diversity in the largest collection of R-M269-related chromosomes yet assembled reveals no geographical trends in diversity, in contradiction to expectation under the Neolithic hypothesis, and suggests an alternative explanation for the apparent cline in diversity recently described.
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