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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
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A Comparison of the ASEBA Adult Self Report (ASR) and the Brief Problem Monitor (BPM/18-59)
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In: Behav Genet (2020)
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Novel genetic loci associated with hippocampal volume
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In: ISSN: 2041-1723 ; EISSN: 2041-1723 ; Nature Communications ; https://hal.archives-ouvertes.fr/hal-01488337 ; Nature Communications, Nature Publishing Group, 2017, 8, pp.13624. ⟨10.1038/ncomms13624⟩ (2017)
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Novel genetic loci underlying human intracranial volume identified through genome-wide association
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In: ISSN: 1097-6256 ; EISSN: 1546-1726 ; Nature Neuroscience ; https://hal.archives-ouvertes.fr/hal-01382716 ; Nature Neuroscience, Nature Publishing Group, 2016, 19 (12), pp.1569-1582. ⟨10.1038/nn.4398⟩ (2016)
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Common genetic variants influence human subcortical brain structures.
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In: ISSN: 0028-0836 ; EISSN: 1476-4679 ; Nature ; https://hal.archives-ouvertes.fr/hal-01196805 ; Nature, Nature Publishing Group, 2015, 520 (7546), pp.224-9. ⟨10.1038/nature14101⟩ (2015)
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Low birth weight in MZ twins discordant for birth weight is associated with shorter telomere length and lower IQ, but not anxiety/depression in later life
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Intelligence: Shared genetic basis between Mendelian disorders and a polygenic trait
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Childhood intelligence is heritable, highly polygenic and associated with FNBP1L
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Genotype by environment interactions in cognitive ability: a survey of 14 studies from four countries covering four age groups
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The ongoing adaptive evolution of ASPM and microcephalin is not explained by increased intelligence
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Mekel-Bobrov, Nitzan; Posthuma, Danielle; Gilbert, Sandra L.; Lind, Penelope; Gosso, M. Florencia; Luciano, Michelle; Harris, Sarah E.; Bates, Timothy C.; Polderman, Tinca J.; Whalley, Lawrence J.; Fox, Helen; Starr, John M.; Evans, Patrick D.; Montgomery, Grant W.; Fernandes, Croydon; Heutink, Peter; Martin, Nicholas G.; Boomsma, Dorret I.; Deary, Ian J.; Wright, Margaret J.; de Geus, Eco J.; Lahn, Bruce T.. - : Oxford University Press, 2007
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Abstract:
Recent studies have made great strides towards identifying putative genetic events underlying the evolution of the human brain and its emergent cognitive capacities. One of the most intriguing findings is the recurrent identification of adaptive evolution in genes associated with primary microcephaly, a developmental disorder characterized by severe reduction in brain size and intelligence, reminiscent of the early hominid condition. This has led to the hypothesis that the adaptive evolution of these genes has contributed to the emergence of modern human cognition. As with other candidate loci, however, this hypothesis remains speculative due to the current lack of methodologies for characterizing the evolutionary function of these genes in humans. Two primary microcephaly genes, ASPM and Microcephalin, have been implicated not only in the adaptive evolution of the lineage leading to humans, but in ongoing selective sweeps in modern humans as well. The presence of both the putatively adaptive and neutral alleles at these loci provides a unique opportunity for using normal trait variation within humans to test the hypothesis that the recent selective sweeps are driven by an advantage in cognitive abilities. Here, we report a large-scale association study between the adaptive alleles of these genes and normal variation in several measures of IQ. Five independent samples were used, totaling 2393 subjects, including both family-based and population-based datasets. Our overall findings do not support a detectable association between the recent adaptive evolution of either ASPM or Microcephalin and changes in IQ. As we enter the post-genomic era, with the number of candidate loci underlying human evolution growing rapidly, our findings highlight the importance of direct experimental validation in elucidating their evolutionary role in shaping the human phenotype.
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Keyword:
321011 Medical Genetics; 730107 Inherited diseases (incl. gene therapy); Adolescent; Adult; Alleles; C1; Child
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URL: https://espace.library.uq.edu.au/view/UQ:131445
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Genetic Contributions to Human Brain Morphology and Intelligence
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