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000138904 0247_ $$2doi$$a10.1038/nn.4398
000138904 0247_ $$2pmid$$apmid:27694991
000138904 0247_ $$2pmc$$apmc:PMC5227112
000138904 0247_ $$2ISSN$$a1097-6256
000138904 0247_ $$2ISSN$$a1471-003X
000138904 0247_ $$2ISSN$$a1471-0048
000138904 0247_ $$2ISSN$$a1546-1726
000138904 0247_ $$2altmetric$$aaltmetric:12406379
000138904 037__ $$aDZNE-2020-05226
000138904 041__ $$aEnglish
000138904 082__ $$a570
000138904 1001_ $$aAdams, Hieab H H$$b0
000138904 245__ $$aNovel genetic loci underlying human intracranial volume identified through genome-wide association.
000138904 260__ $$aLondon$$bNature Publ. Group58142$$c2016
000138904 264_1 $$2Crossref$$3online$$bSpringer Science and Business Media LLC$$c2016-10-03
000138904 264_1 $$2Crossref$$3print$$bSpringer Science and Business Media LLC$$c2016-12-01
000138904 3367_ $$2DRIVER$$aarticle
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000138904 3367_ $$2BibTeX$$aARTICLE
000138904 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000138904 3367_ $$00$$2EndNote$$aJournal Article
000138904 520__ $$aIntracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.
000138904 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
000138904 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x1
000138904 542__ $$2Crossref$$i2016-10-03$$uhttp://www.springer.com/tdm
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000138904 650_7 $$0EC 2.7.1.-$$2NLM Chemicals$$aPhosphatidylinositol 3-Kinases
000138904 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aOncogene Protein v-akt
000138904 650_2 $$2MeSH$$aWhite People
000138904 650_2 $$2MeSH$$aBrain: growth & development
000138904 650_2 $$2MeSH$$aBrain: pathology
000138904 650_2 $$2MeSH$$aCognition: physiology
000138904 650_2 $$2MeSH$$aEuropean Continental Ancestry Group
000138904 650_2 $$2MeSH$$aGenetic Loci: genetics
000138904 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000138904 650_2 $$2MeSH$$aGenome-Wide Association Study: methods
000138904 650_2 $$2MeSH$$aHumans
000138904 650_2 $$2MeSH$$aOncogene Protein v-akt: genetics
000138904 650_2 $$2MeSH$$aParkinson Disease: genetics
000138904 650_2 $$2MeSH$$aPhenotype
000138904 650_2 $$2MeSH$$aPhosphatidylinositol 3-Kinases: genetics
000138904 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide: genetics
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000138904 7001_ $$aIkeda, Masashi$$b221
000138904 7001_ $$0P:(DE-HGF)0$$aIkram, M Kamran$$b222$$eCorresponding author
000138904 7001_ $$aJack, Clifford R$$b223
000138904 7001_ $$aJenkinson, Mark$$b224
000138904 7001_ $$aJohnson, Robert$$b225
000138904 7001_ $$aJönsson, Erik G$$b226
000138904 7001_ $$aJukema, J Wouter$$b227
000138904 7001_ $$aKahn, René S$$b228
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000138904 7001_ $$aKloszewska, Iwona$$b230
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000138904 7001_ $$aKochunov, Peter$$b232
000138904 7001_ $$aKwok, John B$$b233
000138904 7001_ $$aLawrie, Stephen M$$b234
000138904 7001_ $$aLemaître, Hervé$$b235
000138904 7001_ $$aLiu, Xinmin$$b236
000138904 7001_ $$aLongo, Dan L$$b237
000138904 7001_ $$aLongstreth, W. T.$$b238
000138904 7001_ $$aLopez, Oscar L$$b239
000138904 7001_ $$aLovestone, Simon$$b240
000138904 7001_ $$aMartinez, Oliver$$b241
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000138904 7001_ $$aMattay, Venkata S$$b243
000138904 7001_ $$aMcDonald, Colm$$b244
000138904 7001_ $$aMcIntosh, Andrew M$$b245
000138904 7001_ $$aMcMahon, Katie L$$b246
000138904 7001_ $$aMcMahon, Francis J$$b247
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000138904 7001_ $$aMontgomery, Grant W$$b252
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000138904 77318 $$2Crossref$$3journal-article$$a10.1038/nn.4398$$b : Springer Science and Business Media LLC, 2016-10-03$$n12$$p1569-1582$$tNature Neuroscience$$v19$$x1097-6256$$y2016
000138904 773__ $$0PERI:(DE-600)2028902-9$$a10.1038/nn.4398$$gVol. 19, no. 12, p. 1569 - 1582$$n12$$p1569-1582$$q19:12<1569 - 1582$$tNature reviews / Neuroscience$$v19$$x1097-6256$$y2016
000138904 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112
000138904 909CO $$ooai:pub.dzne.de:138904$$pVDB
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