Common variants at 6q22 and 17q21 are associated with intracranial volume
| Autor: | Julie A. Marsh, Meike W. Vernooij, Nicholas J. Timpson, Linda S. Adair, Maksim Struchalin, Kelly S. Benke, Alex P. Zijdenbos, Wiro J. Niessen, Dexter Hadley, André Scherag, Niina Siitonen, Johannes Hedebrand, Helena Schmidt, Iona Y. Millwood, Emily Oken, David S. Knopman, James F. Wilson, H. Rob Taal, Henri A. Vrooman, Karen L. Mohlke, Myriam Fornage, Vilmundur Gudnason, Leslie A. Lange, Sigurdur Sigurdsson, Maria M. Groen-Blokhuis, Diane J. Catellier, Stefan Ropele, Seang Mei Saw, Sylvain Sebert, Alexa S. Beiser, Lyle J. Palmer, Claudia Flexeder, Paul Elliott, George Davey Smith, John W. Holloway, Michel G. Nivard, Mike A. Nalls, Albert V. Smith, Cyrus Cooper, E Zeggini, Terho Lehtimäki, Struan F.A. Grant, Virpi Lindi, Romy Gaillard, B. Gwen Windham, Dennis O. Mook-Kanamori, Claus Holst, Timo A. Lakka, Stéphanie Debette, Liang Kee Goh, Ewan R. Pearson, Tamara B. Harris, Momoko Horikoshi, Jeffrey C. Murray, Mirna Kirin, M. Arfan Ikram, George V. Dedoussis, Anita L. DeStefano, Clifford R. Jack, Alex Lewin, Reedik Maggi, Vincent W. V. Jaddoe, Haukur Gudnason, Hakon Hakonarson, Thomas H. Mosley, Alina Rodriguez, Sudha Seshadri, William M. Meeks, Philip A. Wolf, Gonneke Willemsen, B. Valcarcel, Anke Hinney, Eric A.P. Steegers, Lenore J. Launer, Elina Hyppönen, Lachlan J. M. Coin, Elisabeth Thiering, Mustafa Atalay, W. T. Longstreth, Thorkild I. A. Sørensen, André G. Uitterlinden, Christel M. Middeldorp, Matthew W. Gillman, Ken K. Ong, Oliver S. P. Davis, Monique M.B. Breteler, Wei Ang, Ulla Sovio, Tuomas O. Kilpeläinen, Ioanna Ntalla, Marjo-Riitta Järvelin, Aad van der Lugt, Cornelia M. van Duijn, Cecilia M. Lindgren, Rany M. Salem, Laura H. Coker, Craig E. Pennell, Fernando Rivadeneira, Thomas S. Price, Charles DeCarli, Dorret I. Boomsma, Ellen Aagaard Nohr, Diane Berry, Rhoda Au, Yik Y. Teo, Ville Huikari, Jouke-Jan Hottenga, Matthew Kowgier, Joachim Heinrich, Nienke E. Bergen, Beate St Pourcain, Reinhold Schmidt, C Power, Kalliope Panoutsopoulou, Olli T. Raitakari, Albert Hofman, Mark I. McCarthy, Joel N. Hirschhorn, Olli Simell, Claire M. A. Haworth, Mark A. van Buchem, Anna-Liisa Hartikainen, Berthold Hocher, Debbie A Lawlor, Jennifer Pararajasingham, Toos C. E. M. van Beijsterveldt, David P. Strachan, Hanna Maaria Lakka, Timothy M. Frayling |
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| Přispěvatelé: | Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Early Growth Genetics (EGG) Consortium, Ikram, M Afran, Fornage, Myriam, Smith, Albert V, Seshadri, Sudha, Hypponen, Elina Tuulikki, Wilson, James F, Biological Psychology, Radiology & Nuclear Medicine, Epidemiology, Erasmus MC other, Internal Medicine, Obstetrics & Gynecology, Public Health, Medical Oncology |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Netherlands Twin Register (NTR)
Genetic Markers Male medicine.medical_specialty Medizin Locus (genetics) Genome-wide association study physiopathology [Brain] Biology Bioinformatics Polymorphism Single Nucleotide Article genetics [Chromosomes Human Pair 17] 03 medical and health sciences 0302 clinical medicine ddc:570 Intracranial volume Internal medicine medicine Genetics Humans 030304 developmental biology Aged Aged 80 and over 0303 health sciences Haplotype Chromosome Brain Infant genetics [Chromosomes Human Pair 6] Microdeletion syndrome ta3121 physiopathology [Head] Endocrinology Genetic marker Genetic Loci Brain size genetics [Polymorphism Single Nucleotide] Institut für Ernährungswissenschaft Chromosomes Human Pair 6 Female Head 030217 neurology & neurosurgery Chromosomes Human Pair 17 Genome-Wide Association Study |
| Zdroj: | Nature Genetics Nature Genetics, 44(5), 539 Ikram, M A, Fornage, M, Smith, A V, Seshadri, S, Schmidt, R, Debette, S, Vrooman, H A, Sigurdsson, S, Ropele, S, Taal, H R, Mook-Kanamori, D O, Coker, L H, Longstreth, W T, Niessen, W J, DeStefano, A L, Beiser, A, Zijdenbos, A P, Struchalin, M, Jack, C R, Rivadeneira, F, Uitterlinden, A G, Knopman, D S, Hartikainen, A-L, Pennell, C E, Thiering, E, Steegers, E A P, Hakonarson, H, Heinrich, J, Palmer, L J, Jarvelin, M-R, McCarthy, M I, Grant, S F A, St Pourcain, B, Timpson, N J, Smith, G D, Sovio, U, Nalls, M A, Au, R, Hofman, A, Gudnason, H, van der Lugt, A, Harris, T B, Meeks, W M, Vernooij, M W, van Buchem, M A, Catellier, D, Jaddoe, V W V, Gudnason, V & Windham, B G & Wilson, J F 2012, ' Common variants at 6q22 and 17q21 are associated with intracranial volume ', Nature Genetics, vol. 44, no. 5, pp. 539-+ . https://doi.org/10.1038/ng.2245 Nature Genetics, 44(5), 539-544. Nature Publishing Group Nature Genetics; Vol 44 Nature Genetics, 44(5), 539-+. Nature Publishing Group Arfan Ikram, M, Fornage, M, Smith, A V, Seshadri, S, Schmidt, R, Debette, S, Vrooman, H A, Sigurdsson, S, Ropele, S, Taal, H R, Mook-Kanamori, D O, Coker, L H, Longstreth, J W T, Niessen, W J, DeStefano, A L, Beiser, A, Zijdenbos, A P, Struchalin, M, Jack, C R, Rivadeneira, F, Uitterlinden, A G, Knopman, D S, Hartikainen, A-L, Pennell, C E, Thiering, E, Steegers, E A P, Hakonarson, H, Heinrich, J, Palmer, L J, Jarvelin, M-R, McCarthy, M I, Grant, S F A, St Pourcain, B, Timpson, N J, Smith, G D, Sovio, U, van Beijsterveldt, C E M, Groen-Blokhuis, M M, Hottenga, J J, Middeldorp, C M, Nivard, M G, Willemsen, G, Boomsma, D I, Nalls, M A, Au, R, Hofman, A, Gudnason, H, van der Lugt, A, Harris, T B, Meeks, W M, Vernooij, M W, van Buchem, M A, Catellier, D, Jaddoe, V W V, Gudnason, V, Windham, B G, Wolf, P A, van Duijn, C M, Mosley, T H, Schmidt, H, Launer, L J, Breteler, M M B & DeCarli, C S 2012, ' Common variants at 6q22 and 17q21 are associated with intracranial volume ', Nature Genetics, vol. 44, no. 5, pp. 539-544 . https://doi.org/10.1038/ng.2245 Nature genetics 44(5), 539-544 (2012). doi:10.1038/ng.2245 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.2245 |
| Popis: | During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 × 10 -8) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 × 10 -11), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 × 10 -12), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 × 10 -3 for 6q22 and 1.2 × 10 -3 for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size. © 2012 Nature America, Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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