Home > Publications Database > Novel genetic loci underlying human intracranial volume identified through genome-wide association. > print

001     138904
005     20240321220523.0
024 7 _ |a 10.1038/nn.4398
|2 doi
024 7 _ |a pmid:27694991
|2 pmid
024 7 _ |a pmc:PMC5227112
|2 pmc
024 7 _ |a 1097-6256
|2 ISSN
024 7 _ |a 1471-003X
|2 ISSN
024 7 _ |a 1471-0048
|2 ISSN
024 7 _ |a 1546-1726
|2 ISSN
024 7 _ |a altmetric:12406379
|2 altmetric
037 _ _ |a DZNE-2020-05226
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Adams, Hieab H H
|b 0
245 _ _ |a Novel genetic loci underlying human intracranial volume identified through genome-wide association.
260 _ _ |a London
|c 2016
|b Nature Publ. Group58142
264 _ 1 |3 online
|2 Crossref
|b Springer Science and Business Media LLC
|c 2016-10-03
264 _ 1 |3 print
|2 Crossref
|b Springer Science and Business Media LLC
|c 2016-12-01
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1596714211_18165
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a Intracranial 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.
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
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542 _ _ |i 2016-10-03
|2 Crossref
|u http://www.springer.com/tdm
588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a Phosphatidylinositol 3-Kinases
|0 EC 2.7.1.-
|2 NLM Chemicals
650 _ 7 |a Oncogene Protein v-akt
|0 EC 2.7.11.1
|2 NLM Chemicals
650 _ 2 |a White People
|2 MeSH
650 _ 2 |a Brain: growth & development
|2 MeSH
650 _ 2 |a Brain: pathology
|2 MeSH
650 _ 2 |a Cognition: physiology
|2 MeSH
650 _ 2 |a European Continental Ancestry Group
|2 MeSH
650 _ 2 |a Genetic Loci: genetics
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease
|2 MeSH
650 _ 2 |a Genome-Wide Association Study: methods
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Oncogene Protein v-akt: genetics
|2 MeSH
650 _ 2 |a Parkinson Disease: genetics
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
650 _ 2 |a Phosphatidylinositol 3-Kinases: genetics
|2 MeSH
650 _ 2 |a Polymorphism, Single Nucleotide: genetics
|2 MeSH
700 1 _ |a Hibar, Derrek P
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700 1 _ |a Chouraki, Vincent
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700 1 _ |a Stein, Jason L
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773 1 8 |a 10.1038/nn.4398
|b : Springer Science and Business Media LLC, 2016-10-03
|n 12
|p 1569-1582
|3 journal-article
|2 Crossref
|t Nature Neuroscience
|v 19
|y 2016
|x 1097-6256
773 _ _ |a 10.1038/nn.4398
|g Vol. 19, no. 12, p. 1569 - 1582
|0 PERI:(DE-600)2028902-9
|n 12
|q 19:12<1569 - 1582
|p 1569-1582
|t Nature reviews / Neuroscience
|v 19
|y 2016
|x 1097-6256
856 7 _ |2 Pubmed Central
|u http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112
909 C O |p VDB
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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913 1 _ |a DE-HGF
|b Forschungsbereich Gesundheit
|l Erkrankungen des Nervensystems
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914 1 _ |y 2016
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999 C 5 |a 10.1093/brain/120.2.257
|9 -- missing cx lookup --
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|o 10.1093/brain/120.2.257
999 C 5 |a 10.1111/j.1365-2990.1977.tb00595.x
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999 C 5 |a 10.3171/jns.1999.91.4.0610
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999 C 5 |a 10.1016/j.neuroimage.2004.06.018
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999 C 5 |a 10.1016/j.neurobiolaging.2011.03.017
|9 -- missing cx lookup --
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|o 10.1016/j.neurobiolaging.2011.03.017
999 C 5 |a 10.1038/ng0612-732c
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999 C 5 |a 10.1038/ng.2250
|9 -- missing cx lookup --
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|o 10.1038/ng.2250
999 C 5 |a 10.1038/nature14101
|9 -- missing cx lookup --
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|o 10.1038/nature14101
999 C 5 |a 10.1093/cercor/bhr350
|9 -- missing cx lookup --
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|o 10.1093/cercor/bhr350
999 C 5 |a 10.1161/CIRCGENETICS.108.829747
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999 C 5 |a 10.1007/s11682-013-9269-5
|9 -- missing cx lookup --
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|o 10.1007/s11682-013-9269-5
999 C 5 |a 10.1038/ng.3211
|9 -- missing cx lookup --
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|o 10.1038/ng.3211
999 C 5 |a 10.1038/ng.3097
|9 -- missing cx lookup --
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|o 10.1038/ng.3097
999 C 5 |a 10.1038/ng1508
|9 -- missing cx lookup --
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|o 10.1038/ng1508
999 C 5 |a 10.1016/S1474-4422(13)70090-5
|9 -- missing cx lookup --
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|o 10.1016/S1474-4422(13)70090-5
999 C 5 |a 10.1038/mp.2015.6
|9 -- missing cx lookup --
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999 C 5 |a 10.1016/j.ejmg.2007.05.001
|9 -- missing cx lookup --
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|o 10.1016/j.ejmg.2007.05.001
999 C 5 |a 10.1038/ng.2262
|9 -- missing cx lookup --
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999 C 5 |a 10.1038/ng.2249
|9 -- missing cx lookup --
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|o 10.1038/ng.2249
999 C 5 |a 10.1371/journal.pgen.1004423
|9 -- missing cx lookup --
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|o 10.1371/journal.pgen.1004423
999 C 5 |a 10.1093/gerona/glu166
|9 -- missing cx lookup --
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|o 10.1093/gerona/glu166
999 C 5 |a 10.1093/hmg/ddq560
|9 -- missing cx lookup --
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|o 10.1093/hmg/ddq560
999 C 5 |a 10.1016/j.stem.2009.09.013
|9 -- missing cx lookup --
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|o 10.1016/j.stem.2009.09.013
999 C 5 |a 10.1016/j.stem.2009.09.014
|9 -- missing cx lookup --
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|o 10.1016/j.stem.2009.09.014
999 C 5 |a 10.1016/j.ghir.2013.05.002
|9 -- missing cx lookup --
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999 C 5 |a 10.1038/ng.2238
|9 -- missing cx lookup --
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999 C 5 |a 10.1038/ejhg.2010.215
|9 -- missing cx lookup --
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|o 10.1038/ejhg.2010.215
999 C 5 |a 10.1002/jcp.21204
|9 -- missing cx lookup --
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|o 10.1002/jcp.21204
999 C 5 |y 2015
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999 C 5 |a 10.1038/ncb2050
|9 -- missing cx lookup --
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999 C 5 |a 10.1016/j.ajhg.2015.02.018
|9 -- missing cx lookup --
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|o 10.1016/j.ajhg.2015.02.018
999 C 5 |a 10.1016/j.braindev.2010.09.004
|9 -- missing cx lookup --
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|o 10.1016/j.braindev.2010.09.004
999 C 5 |a 10.1016/S1474-4422(12)70191-6
|9 -- missing cx lookup --
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999 C 5 |a 10.1002/dneu.20609
|9 -- missing cx lookup --
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|o 10.1002/dneu.20609
999 C 5 |a 10.1053/j.semperi.2014.10.006
|9 -- missing cx lookup --
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|o 10.1053/j.semperi.2014.10.006
999 C 5 |a 10.1038/ng.2331
|9 -- missing cx lookup --
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|o 10.1038/ng.2331
999 C 5 |a 10.1086/519999
|9 -- missing cx lookup --
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|o 10.1086/519999
999 C 5 |a 10.1002/ajmg.a.35999
|9 -- missing cx lookup --
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|o 10.1002/ajmg.a.35999
999 C 5 |a 10.1111/j.1474-9726.2009.00493.x
|9 -- missing cx lookup --
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|o 10.1111/j.1474-9726.2009.00493.x
999 C 5 |a 10.1038/mp.2014.188
|9 -- missing cx lookup --
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999 C 5 |a 10.1001/jamapsychiatry.2015.0554
|9 -- missing cx lookup --
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999 C 5 |a 10.1007/s10519-015-9735-5
|9 -- missing cx lookup --
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|o 10.1007/s10519-015-9735-5
999 C 5 |a 10.1038/ng.3043
|9 -- missing cx lookup --
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999 C 5 |a 10.1016/S0140-6736(12)62129-1
|9 -- missing cx lookup --
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|o 10.1016/S0140-6736(12)62129-1
999 C 5 |a 10.1038/mp.2012.184
|9 -- missing cx lookup --
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|o 10.1038/mp.2012.184
999 C 5 |a 10.1038/nature14248
|9 -- missing cx lookup --
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|o 10.1038/nature14248
999 C 5 |a 10.1093/bioinformatics/btq340
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|o 10.1093/bioinformatics/btq340
999 C 5 |a 10.1016/j.neurobiolaging.2014.12.028
|9 -- missing cx lookup --
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|o 10.1016/j.neurobiolaging.2014.12.028
999 C 5 |a 10.1038/ng.3404
|9 -- missing cx lookup --
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999 C 5 |a 10.1038/ng.2477
|9 -- missing cx lookup --
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|o 10.1038/ng.2477
999 C 5 |a 10.1093/hmg/ddu510
|9 -- missing cx lookup --
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|o 10.1093/hmg/ddu510
999 C 5 |a 10.1038/ng.2802
|9 -- missing cx lookup --
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|o 10.1038/ng.2802
999 C 5 |a 10.1016/j.ajhg.2011.01.019
|9 -- missing cx lookup --
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|o 10.1016/j.ajhg.2011.01.019
999 C 5 |a 10.1371/journal.pgen.1001058
|9 -- missing cx lookup --
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|o 10.1371/journal.pgen.1001058
999 C 5 |a 10.1016/j.ajhg.2012.08.004
|9 -- missing cx lookup --
|2 Crossref
|o 10.1016/j.ajhg.2012.08.004

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21