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Identification of common variants associated with human hippocampal and intracranial volumes
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(2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics, Vol.44 (No.5). pp. 552-561. doi:10.1038/ng.2250 ISSN 1061-4036.
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Official URL: http://dx.doi.org/10.1038/ng.2250
Abstract
Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease1, 2 and is reduced in schizophrenia3, major depression4 and mesial temporal lobe epilepsy5. Whereas many brain imaging phenotypes are highly heritable6, 7, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 × 10−16) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 × 10−12). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10−7).
| Item Type: | Journal Article | ||||
|---|---|---|---|---|---|
| Divisions: | Faculty of Science, Engineering and Medicine > Science > Statistics Faculty of Science, Engineering and Medicine > Engineering > WMG (Formerly the Warwick Manufacturing Group) |
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| Journal or Publication Title: | Nature Genetics | ||||
| Publisher: | Nature Publishing Group | ||||
| ISSN: | 1061-4036 | ||||
| Official Date: | 2012 | ||||
| Dates: |
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| Volume: | Vol.44 | ||||
| Number: | No.5 | ||||
| Page Range: | pp. 552-561 | ||||
| DOI: | 10.1038/ng.2250 | ||||
| Status: | Peer Reviewed | ||||
| Publication Status: | Published | ||||
| Access rights to Published version: | Restricted or Subscription Access |
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