Common variants at 6q22 and 17q21 are associated with intracranial volume.
Common variants at 6q22 and 17q21 are associated with intracranial volume.
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DOI：
10.1038/ng.2245
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发表时间：
2012-04-15
期刊：
影响因子：
30.8
通讯作者：
Wilson, James F.
中科院分区：
文献类型：
--
作者：
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., Jr.;Niessen, Wiro J.;DeStefano, Anita L.;Beiser, Alexa;Zijdenbos, Alex P.;Struchalin, Maksim;Jack, Clifford R., Jr.;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., Jr.;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.
在衰老过程中，颅内容积保持不变，代表大脑最大尺寸，而各种相互作用的生物现象会导致脑容量损失。因此，晚年的颅内容积和脑容量反映了不同的遗传影响。我们对 8,175 名社区居住的老年人进行的全基因组关联研究并未揭示与脑容量有任何全基因组显着关联 (p<5*10−8)。相比之下，颅内容量与两个位点显着相关：rs4273712 (p=3.4*10−11)，染色体 6q22 上已知的高度位点，以及 rs9915547，标记染色体 17q21 上的倒位 (p=1.5*10−12)。我们在 1,752 名老年人的单独样本中复制了这些位点与颅内容量的关联（6q22 的 p=1.1*10−3，17q21 的 p=1.2*10−3）。此外，我们还发现 10,768 名儿童（平均年龄 14.5 个月）的 17q21 基因座与头围存在暗示性关联。我们的数据确定了两个与头部尺寸相关的基因座，17q21 上的倒位也可能与获得最大大脑尺寸有关。
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 in 8,175 community-dwelling elderly did not reveal any genome-wide significant associations (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 locus on chromosome 6q22, and rs9915547, tagging the inversion on chromosome 17q21 (p=1.5*10−12). We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 older persons (p=1.1*10−3 for 6q22 and p=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 14.5 months). Our data identify two loci associated with head size, with the inversion on 17q21 also likely involved in attaining maximal brain size.
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影响因子：
4.7
作者：
Conrad, C;Vianna, C;Davies, P
通讯作者：
Davies, P
DOI：
10.1161/circgenetics.108.829747
发表时间：
2009-02
期刊：
Circulation. Cardiovascular genetics
影响因子：
--
作者：
Psaty BM;O'Donnell CJ;Gudnason V;Lunetta KL;Folsom AR;Rotter JI;Uitterlinden AG;Harris TB;Witteman JC;Boerwinkle E;CHARGE Consortium
通讯作者：
CHARGE Consortium
影响因子：
4.2
作者：
Ikram, M. Arfan;Vrooman, Henri A.;Breteler, Monique M. B.
通讯作者：
Breteler, Monique M. B.
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
4
作者：
Koolen DA;Sharp AJ;Hurst JA;Firth HV;Knight SJ;Goldenberg A;Saugier-Veber P;Pfundt R;Vissers LE;Destrée A;Grisart B;Rooms L;Van der Aa N;Field M;Hackett A;Bell K;Nowaczyk MJ;Mancini GM;Poddighe PJ;Schwartz CE;Rossi E;De Gregori M;Antonacci-Fulton LL;McLellan MD 2nd;Garrett JM;Wiechert MA;Miner TL;Crosby S;Ciccone R;Willatt L;Rauch A;Zenker M;Aradhya S;Manning MA;Strom TM;Wagenstaller J;Krepischi-Santos AC;Vianna-Morgante AM;Rosenberg C;Price SM;Stewart H;Shaw-Smith C;Brunner HG;Wilkie AO;Veltman JA;Zuffardi O;Eichler EE;de Vries BB
通讯作者：
de Vries BB