Abstract
Original language | English |
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Pages (from-to) | 539-544 |
Number of pages | 7 |
Journal | Nature Genetics |
Volume | 44 |
Issue number | 5 |
DOIs | |
Publication status | Published - May 2012 |
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Common variants at 6q22 and 17q21 are associated with intracranial volume. / Ikram, M. Arfan; Fornage, Myriam; Smith, Albert V.; Seshadri, Sudha; Schmidt, Reinhold; Debette, Stephanie; Vrooman, Henri A.; Sigurdsson, Sigurdur; Ropele, Stefan; Taal, H. Rob; Mook-Kanamori, Dennis O.; Coker, Laura H.; Longstreth, W. T.; Niessen, Wiro J.; DeStefano, Anita L.; Beiser, Alexa; Zijdenbos, Alex P.; Struchalin, Maksim; Jack, Clifford R.; Rivadeneira, Fernando; Uitterlinden, Andre G.; Knopman, David S.; Hartikainen, Anna-Liisa; Pennell, Craig E.; Thiering, Elisabeth; Steegers, Eric A. P.; Hakonarson, Hakon; Heinrich, Joachim; Palmer, Lyle J.; Jarvelin, Marjo-Riitta; McCarthy, Mark I.; Grant, Struan F. A.; St Pourcain, Beate; Timpson, Nicholas J.; Smith, George Davey; Sovio, Ulla; Nalls, Mike A.; Au, Rhoda; Hofman, Albert; Gudnason, Haukur; van der Lugt, Aad; Harris, Tamara B.; Meeks, William M.; Vernooij, Meike W.; van Buchem, Mark A.; Catellier, Diane; Jaddoe, Vincent W. V.; Gudnason, Vilmundur; Windham, B. Gwen; Wolf, Philip A.; van Duijn, Cornelia M.; Mosley, Thomas H.; Schmidt, Helena; Launer, Lenore J.; Breteler, Monique M. B.; DeCarli, Charles; Adair, Linda S.; Ang, Wei; Atalay, Mustafa; vanBeijsterveldt, Toos; Bergen, Nienke; Benke, Kelly; Berry, Diane; Coin, Lachlan; Davis, Oliver S. P.; Elliott, Paul; Flexeder, Claudia; Frayling, Tim; Gaillard, Romy; Groen-Blokhuis, Maria; Goh, Liang-Kee; Haworth, Claire M. A.; Hadley, Dexter; Hedebrand, Johannes; Hinney, Anke; Hirschhorn, Joel N.; Holloway, John W.; Holst, Claus; Hottenga, Jouke Jan; Horikoshi, Momoko; Huikari, Ville; Hypponen, Elina; Kilpelainen, Tuomas O.; Kirin, Mirna; Kowgier, Matthew; Lakka, Hanna-Maaria; Lange, Leslie A.; Lawlor, Debbie A.; Lehtimaki, Terho; Lewin, Alex; Lindgren, Cecilia; Lindi, Virpi; Maggi, Reedik; Marsh, Julie; Middeldorp, Christel; Millwood, Iona; Murray, Jeffrey C.; Nivard, Michel; Nohr, Ellen Aagaard; Ntalla, Ioanna; Oken, Emily; Panoutsopoulou, Kalliope; Pararajasingham, Jennifer; Rodriguez, Alina; Salem, Rany M.; Sebert, Sylvain; Siitonen, Niina; Strachan, David P.; Teo, Yik-Ying; Valcarcel, Beatriz; Willemsen, Gonneke; Zeggini, Eleftheria; Boomsma, Dorret I.; Cooper, Cyrus; Gillman, Matthew; Hocher, Berthold; Lakka, Timo A.; Mohlke, Karen L.; Dedoussis, George V.; Ong, Ken K.; Pearson, Ewan R.; Price, Thomas S. ; Power, Chris; Raitakari, Olli T.; Saw, Seang-Mei; Scherag, Andre; Simell, Olli; Sorensen, Thorkild I. A.; Wilson, James F.
In: Nature Genetics, Vol. 44, No. 5, 05.2012, p. 539-544.Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Common variants at 6q22 and 17q21 are associated with intracranial volume
AU - Ikram, M. Arfan
AU - Fornage, Myriam
AU - Smith, Albert V.
AU - Seshadri, Sudha
AU - Schmidt, Reinhold
AU - Debette, Stephanie
AU - Vrooman, Henri A.
AU - Sigurdsson, Sigurdur
AU - Ropele, Stefan
AU - Taal, H. Rob
AU - Mook-Kanamori, Dennis O.
AU - Coker, Laura H.
AU - Longstreth, W. T.
AU - Niessen, Wiro J.
AU - DeStefano, Anita L.
AU - Beiser, Alexa
AU - Zijdenbos, Alex P.
AU - Struchalin, Maksim
AU - Jack, Clifford R.
AU - Rivadeneira, Fernando
AU - Uitterlinden, Andre G.
AU - Knopman, David S.
AU - Hartikainen, Anna-Liisa
AU - Pennell, Craig E.
AU - Thiering, Elisabeth
AU - Steegers, Eric A. P.
AU - Hakonarson, Hakon
AU - Heinrich, Joachim
AU - Palmer, Lyle J.
AU - Jarvelin, Marjo-Riitta
AU - McCarthy, Mark I.
AU - Grant, Struan F. A.
AU - St Pourcain, Beate
AU - Timpson, Nicholas J.
AU - Smith, George Davey
AU - Sovio, Ulla
AU - Nalls, Mike A.
AU - Au, Rhoda
AU - Hofman, Albert
AU - Gudnason, Haukur
AU - van der Lugt, Aad
AU - Harris, Tamara B.
AU - Meeks, William M.
AU - Vernooij, Meike W.
AU - van Buchem, Mark A.
AU - Catellier, Diane
AU - Jaddoe, Vincent W. V.
AU - Gudnason, Vilmundur
AU - Windham, B. Gwen
AU - Wolf, Philip A.
AU - van Duijn, Cornelia M.
AU - Mosley, Thomas H.
AU - Schmidt, Helena
AU - Launer, Lenore J.
AU - Breteler, Monique M. B.
AU - DeCarli, Charles
AU - Adair, Linda S.
AU - Ang, Wei
AU - Atalay, Mustafa
AU - vanBeijsterveldt, Toos
AU - Bergen, Nienke
AU - Benke, Kelly
AU - Berry, Diane
AU - Coin, Lachlan
AU - Davis, Oliver S. P.
AU - Elliott, Paul
AU - Flexeder, Claudia
AU - Frayling, Tim
AU - Gaillard, Romy
AU - Groen-Blokhuis, Maria
AU - Goh, Liang-Kee
AU - Haworth, Claire M. A.
AU - Hadley, Dexter
AU - Hedebrand, Johannes
AU - Hinney, Anke
AU - Hirschhorn, Joel N.
AU - Holloway, John W.
AU - Holst, Claus
AU - Hottenga, Jouke Jan
AU - Horikoshi, Momoko
AU - Huikari, Ville
AU - Hypponen, Elina
AU - Kilpelainen, Tuomas O.
AU - Kirin, Mirna
AU - Kowgier, Matthew
AU - Lakka, Hanna-Maaria
AU - Lange, Leslie A.
AU - Lawlor, Debbie A.
AU - Lehtimaki, Terho
AU - Lewin, Alex
AU - Lindgren, Cecilia
AU - Lindi, Virpi
AU - Maggi, Reedik
AU - Marsh, Julie
AU - Middeldorp, Christel
AU - Millwood, Iona
AU - Murray, Jeffrey C.
AU - Nivard, Michel
AU - Nohr, Ellen Aagaard
AU - Ntalla, Ioanna
AU - Oken, Emily
AU - Panoutsopoulou, Kalliope
AU - Pararajasingham, Jennifer
AU - Rodriguez, Alina
AU - Salem, Rany M.
AU - Sebert, Sylvain
AU - Siitonen, Niina
AU - Strachan, David P.
AU - Teo, Yik-Ying
AU - Valcarcel, Beatriz
AU - Willemsen, Gonneke
AU - Zeggini, Eleftheria
AU - Boomsma, Dorret I.
AU - Cooper, Cyrus
AU - Gillman, Matthew
AU - Hocher, Berthold
AU - Lakka, Timo A.
AU - Mohlke, Karen L.
AU - Dedoussis, George V.
AU - Ong, Ken K.
AU - Pearson, Ewan R.
AU - Price, Thomas S.
AU - Power, Chris
AU - Raitakari, Olli T.
AU - Saw, Seang-Mei
AU - Scherag, Andre
AU - Simell, Olli
AU - Sorensen, Thorkild I. A.
AU - Wilson, James F.
PY - 2012/5
Y1 - 2012/5
N2 - 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 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 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 x 10(-3) for 6q22 and 1.2 x 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.
AB - 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 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 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 x 10(-3) for 6q22 and 1.2 x 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.
U2 - 10.1038/ng.2245
DO - 10.1038/ng.2245
M3 - Article
C2 - 22504418
VL - 44
SP - 539
EP - 544
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 5
ER -