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, S., Ropele, Sigurdur, 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 D., 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, Early Growth Genetics (EGG) Consortium, Coin, Lachlan, Middeldorp, Christel and . (2012) Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature Genetics, 44 5: 539-544. doi:10.1038/ng.2245

Author Ikram, M. Arfan
Fornage, Myriam
Smith, Albert V.
Seshadri, Sudha
Schmidt, Reinhold
Debette, Stephanie
Vrooman, Henri A.
Sigurdsson, S.
Ropele, Sigurdur
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 D.
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
Early Growth Genetics (EGG) Consortium
Coin, Lachlan
Middeldorp, Christel
Title Common variants at 6q22 and 17q21 are associated with intracranial volume
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2012-01-01
Year available 2012
Sub-type Article (original research)
DOI 10.1038/ng.2245
Open Access Status Not yet assessed
Volume 44
Issue 5
Start page 539
End page 544
Total pages 6
Place of publication New York, NY United States
Publisher Nature Publishing Group
Language eng
Subject 1311 Genetics
Abstract 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.
Keyword Genetics & Heredity
Genetics & Heredity
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID N01-AG-12100
MOP 82893
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Institute for Molecular Bioscience - Publications
Child Health Research Centre Publications
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Citation counts: TR Web of Science Citation Count  Cited 62 times in Thomson Reuters Web of Science Article | Citations
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