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  • 1
    Online Resource
    Online Resource
    Shared Genetic Etiology between Cortical Brain Morphology and Tobacco, Alcohol, and Cannabis Use
    Oxford University Press (OUP) ; 2022
    In:  Cerebral Cortex Vol. 32, No. 4 ( 2022-02-08), p. 796-807
    Details
    In: Cerebral Cortex, Oxford University Press (OUP), Vol. 32, No. 4 ( 2022-02-08), p. 796-807
    Abstract: Genome-wide association studies (GWAS) have identified genetic variants associated with brain morphology and substance use behaviors (SUB). However, the genetic overlap between brain structure and SUB has not been well characterized. We leveraged GWAS summary data of 71 brain imaging measures and alcohol, tobacco, and cannabis use to investigate their genetic overlap using linkage disequilibrium score regression. We used genomic structural equation modeling to model a “common SUB genetic factor” and investigated its genetic overlap with brain structure. Furthermore, we estimated SUB polygenic risk scores (PRS) and examined whether they predicted brain imaging traits using the Adolescent Behavior and Cognitive Development (ABCD) study. We identified 8 significant negative genetic correlations, including between (1) alcoholic drinks per week and average cortical thickness, and (2) intracranial volume with age of smoking initiation. We observed 5 positive genetic correlations, including those between (1) insula surface area and lifetime cannabis use, and (2) the common SUB genetic factor and pericalcarine surface area. SUB PRS were associated with brain structure variation in ABCD. Our findings highlight a shared genetic etiology between cortical brain morphology and SUB and suggest that genetic variants associated with SUB may be causally related to brain structure differences.
    Type of Medium: Online Resource
    ISSN: 1047-3211 , 1460-2199
    URL: Article
    DOI: 10.1093/cercor/bhab243
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1483485-6
    SSG: 12
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  • 2
    Online Resource
    Online Resource
    The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area
    Oxford University Press (OUP) ; 2021
    In:  Cerebral Cortex Vol. 31, No. 4 ( 2021-03-05), p. 1873-1887
    Details
    In: Cerebral Cortex, Oxford University Press (OUP), Vol. 31, No. 4 ( 2021-03-05), p. 1873-1887
    Abstract: Structural brain changes along the lineage leading to modern Homo sapiens contributed to our distinctive cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles with evidence of recent positive polygenic selection over the past 2000–3000 years are associated with increased surface area (SA) of the entire cortex, as well as specific regions, including those involved in spoken language and visual processing. Therefore, polygenic selective pressures impact the structure of specific cortical areas even over relatively recent timescales. Moreover, common sequence variation within human gained enhancers active in the prenatal cortex is associated with postnatal global SA. We show that such variation modulates the function of a regulatory element of the developmentally relevant transcription factor HEY2 in human neural progenitor cells and is associated with structural changes in the inferior frontal cortex. These results indicate that non-coding genomic regions active during prenatal cortical development are involved in the evolution of human brain structure and identify novel regulatory elements and genes impacting modern human brain structure.
    Type of Medium: Online Resource
    ISSN: 1047-3211 , 1460-2199
    URL: Article
    DOI: 10.1093/cercor/bhaa327
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
    detail.hit.zdb_id: 1483485-6
    SSG: 12
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  • 3
    Online Resource
    Online Resource
    Elucidating the relationship between migraine risk and brain structure using genetic data
    Oxford University Press (OUP) ; 2022
    In:  Brain Vol. 145, No. 9 ( 2022-09-14), p. 3214-3224
    Details
    In: Brain, Oxford University Press (OUP), Vol. 145, No. 9 ( 2022-09-14), p. 3214-3224
    Abstract: Migraine is a highly common and debilitating disorder that often affects individuals in their most productive years of life. Previous studies have identified both genetic variants and brain morphometry differences associated with migraine risk. However, the relationship between migraine and brain morphometry has not been examined on a genetic level, and the causal nature of the association between brain structure and migraine risk has not been determined. Using the largest available genome-wide association studies to date, we examined the genome-wide genetic overlap between migraine and intracranial volume, as well as the regional volumes of nine subcortical brain structures. We further focused the identification and biological annotation of genetic overlap between migraine and each brain structure on specific regions of the genome shared between migraine and brain structure. Finally, we examined whether the size of any of the examined brain regions causally increased migraine risk using a Mendelian randomization approach. We observed a significant genome-wide negative genetic correlation between migraine risk and intracranial volume (rG = −0.11, P = 1 × 10−3) but not with any subcortical region. However, we identified jointly associated regional genomic overlap between migraine and every brain structure. Gene enrichment in these shared genomic regions pointed to possible links with neuronal signalling and vascular regulation. Finally, we provide evidence of a possible causal relationship between smaller total brain, hippocampal and ventral diencephalon volume and increased migraine risk, as well as a causal relationship between increased risk of migraine and a larger volume of the amygdala. We leveraged the power of large genome-wide association studies to show evidence of shared genetic pathways that jointly influence migraine risk and several brain structures, suggesting that altered brain morphometry in individuals with high migraine risk may be genetically mediated. Further interrogation of these results showed support for the neurovascular hypothesis of migraine aetiology and shed light on potentially viable therapeutic targets.
    Type of Medium: Online Resource
    ISSN: 0006-8950 , 1460-2156
    URL: Article
    DOI: 10.1093/brain/awac105
    RVK:
    XA 10000
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1474117-9
    SSG: 12
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  • 4
    Online Resource
    Online Resource
    Genetic markers for brain plasticity : Neuroimaging: Imaging genetics
    Wiley ; 2020
    In:  Alzheimer's & Dementia Vol. 16, No. S5 ( 2020-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 16, No. S5 ( 2020-12)
    Abstract: Under the influence of genes and a varying environment, human brain structure changes continuously throughout the lifespan. The quest to identify genetic variants that affect the speed of brain aging is of crucial importance for public health and to guide drug development. As structural brain changes vary considerably across individuals, longitudinal studies are crucial to identify genetic and environmental factors that influence development and aging. Brain changes have been shown to be a heritable phenotype (Brouwer et al., 2017). Yet, we still completely lack information on specific genetic variants that influence brain changes throughout life. Methods Through the ENIGMA plasticity working group as part of the ENIGMA consortium (Thompson et al., 2019), we recruited 10,163 subjects [age 4 – 99 year] from 37 cohorts worldwide who had longitudinal structural MRI and whole‐genome genotyping data available in a prospective meta‐analysis design. Longitudinal image processing (Reuter et al., 2012), genomic imputation (Das et al., 2016), quality control and genome‐wide association procedures (Feng et al., 2014)followed a harmonized protocol in each cohort separately. Meta‐analysis and genome‐wide meta‐regressions accounting for age‐dependent effects of genetic variants were performed for global and subcortical structures. Results Change rates of global brain measures showed different patterns with age. We identified 5 genome‐wide significant loci and 15 genome‐wide significant genes, associated with longitudinal brain changes, including an age‐dependent effect of Apolipoprotein E ( APOE ) in the hippocampus and amygdala. Our results suggest a role for metabolic and immune related processes‐shaping brain change throughout our lives. Conclusion We discovered novel genetic effects that influence the speed of both development and aging of brain structures. Our findings are consistent with the changing expression of genes during development and aging (Kang et al., 2011). In conclusion, our study implicates a specific genetic background for inter‐individual differences in human brain plasticity throughout life.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v16.S5
    DOI: 10.1002/alz.042812
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2201940-6
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  • 5
    Online Resource
    Online Resource
    The psychosocial impact of nausea and vomiting during pregnancy as a predictor of postpartum depression
    SAGE Publications ; 2021
    In:  Journal of Health Psychology Vol. 26, No. 7 ( 2021-06), p. 1061-1072
    Details
    In: Journal of Health Psychology, SAGE Publications, Vol. 26, No. 7 ( 2021-06), p. 1061-1072
    Abstract: This study examined the extent to which psychosocial impact of nausea and vomiting during pregnancy predicts postpartum depression using a retrospective design. Data from a cross-sectional survey investigating women’s experiences of nausea and vomiting during pregnancy were used ( N = 861). Hierarchical logistic regression models revealed that the psychosocial impact of nausea and vomiting in pregnancy appears to be predictive of postpartum depression, independent of depression status before and during pregnancy. Our findings indicate that assessing the psychosocial impact of nausea and vomiting in pregnancy during antenatal care may identify women at risk of postpartum depression.
    Type of Medium: Online Resource
    ISSN: 1359-1053 , 1461-7277
    URL: Article
    DOI: 10.1177/1359105319859048
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2021
    detail.hit.zdb_id: 2021897-7
    SSG: 5,2
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  • 6
    Online Resource
    Online Resource
    Validity of large-scale reading tests: A phenotypic and behaviour–genetic analysis
    SAGE Publications ; 2015
    In:  Australian Journal of Education Vol. 59, No. 1 ( 2015-04), p. 5-21
    Details
    In: Australian Journal of Education, SAGE Publications, Vol. 59, No. 1 ( 2015-04), p. 5-21
    Abstract: Each year, all Australian students in grades 3, 5, 7 and 9 sit nationwide large-scale tests in literacy and numeracy which have their validity frequently questioned. We compared the performance of grade 3 twins on these large-scale reading tests with their performance on three individually administered literacy tests in comprehension, word reading and vocabulary within a genetically sensitive design. Comprehension, word reading and vocabulary accounted for a substantial amount of the variance in school reading tests. Performance on large-scale reading tests and individually administered tests was moderately to substantially heritable and the same genes contributed to performance in both types of test. These results confirm that large-scale school reading tests measure, at least in part, the literacy skills assessed by individual tests that are frequently considered to be the ‘gold-standard’ in testing. Also, as could be expected, the individually administered literacy tests were more closely related to performance on large-scale reading tests than to performance on large-scale school numeracy tests.
    Type of Medium: Online Resource
    ISSN: 0004-9441 , 2050-5884
    URL: Article
    DOI: 10.1177/0004944114563775
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2015
    detail.hit.zdb_id: 2420054-2
    SSG: 5,3
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