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1. Common variants at 12q15 and 12q24 are associated with infant head circumference

Author

Taal, H Rob, Pourcain, Beate St, Geller, Frank, Davis, Oliver S P, Elliott, Paul, Evans, David M, Feenstra, Bjarke, Flexeder, Claudia, Frayling, Tim, Freathy, Rachel M, Gaillard, Romy, Groen-Blokhuis, Maria, Guxens, Mònica, Goh, Liang-Kee, Haworth, Claire M A, Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N, Holloway, John W, Holst, Claus, Hottenga, Jouke Jan, Cousminer, Diana L, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Iñiguez, Carmen, Kaakinen, Marika, Kilpeläinen, Tuomas O, Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A, Kerkhof, Marjan, Lawlor, Debbie A, Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Mook-Kanamori, Dennis O, Timpson, Nicholas J, Murray, Jeffrey C, Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, O'Reilly, Paul F, Palmer, Lyle J, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Prokopenko, Inga, Ikram, M Arfan, Rodriguez, Alina, Salem, Rany M, Sebert, Sylvain, Siitonen, Niina, Sovio, Ulla, St Pourcain, Beate, Strachan, David P, Sunyer, Jordi, Teo, Yik-Ying, Beilin, Lawrence J, Thiering, Elisabeth, Tiesler, Carla, Uitterlinden, Andre G, Valcárcel, Beatriz, Warrington, Nicole M, White, Scott, Willemsen, Gonneke, Yaghootkar, Hanieh, Zeggini, Eleftheria, Boomsma, Dorret I, Bønnelykke, Klaus, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Grant, Struan F A, Hakonarson, Hakon, Hattersley, Andrew T, Heinrich, Joachim, Hocher, Berthold, Jaddoe, Vincent W V, Jarvelin, Marjo-Riitta, Buxton, Jessica L, Lakka, Timo A, McCarthy, Mark I, Melbye, Mads, Mohlke, Karen L, Dedoussis, George V, Ong, Ken K, Pearson, Ewan R, Pennell, Craig E, Price, Thomas S, Power, Chris, Charoen, Pimphen, Raitakari, Olli T, Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I A, Widen, Elisabeth, Wilson, James F, Ang, Wei, van Beijsterveldt, Toos, Chawes, Bo Lund Krogsgaard, Bergen, Nienke, Benke, Kelly, Berry, Diane, Bradfield, Jonathan P, Coin, Lachlan, Das, Shikta, Eriksson, Johan, Hofman, Albert, Standl, Marie, Kemp, John P, Kim, Cecilia E, Klopp, Norman, Fornage, Myriam, Smith, Albert V, Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A, Ropele, Stefan, Sigurdsson, Sigurdur, Lahti, Jari, Coker, Laura H, Longstreth, W. T., Niessen, Wiro J, DeStefano, Anita L, Beiser, Alexa, Zijdenbos, Alex P, Struchalin, Maksim, Jack, Clifford R, Nalls, Mike A, Au, Rhoda, Lye, Stephen J, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B, Meeks, William M, Vernooij, Meike W, van Buchem, Mark A, Catellier, Diane, Gudnason, Vilmundur, Windham, B Gwen, McMahon, George, Wolf, Philip A, van Duijn, Cornelia M, Mosley, Thomas H, Schmidt, Helena, Launer, Lenore J, Breteler, Monique M B, DeCarli, Charles, Mentch, Frank D, Müller, Martina, Rivadeneira, Fernando, Steegers, Eric A P, Epidemiology, Cohorts for Heart and Aging Research in Genetic, Debette, Stephanie, Epidemiology, Early Genetics & Lifecourse, Blakemore, Alexandra If, Chiavacci, Rosetta M, Fernandez-Benet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J, Lathrop, Mark, McArdle, Wendy L, Mølgaard, Anne, Newnham, John P, Palotie, Aarno, Pouta, Annneli, Ring, Susan M, Kreiner-Møller, Eskil, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H, Bisgaard, Hans, Smith, George Davey, Genetics, Early Growth, Adair, Linda S, Atalay, Mustafa, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC), Biological Psychology, Neuroscience Campus Amsterdam - Brain Imaging, EMGO+ - Mental Health, Epidemiology, Erasmus MC other, Internal Medicine, Obstetrics & Gynecology, Radiology & Nuclear Medicine, Pediatrics, Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Early Growth Genetics (EGG) Consortium, Taal, H Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Jaddo, Vincent WV, and Hypponen, Elina

Subjects
Embaràs -- Complicacions, Netherlands Twin Register (NTR), Male, Medizin, pathology [Head], Physiology, PROTEIN, Genome-wide association study, INTELLIGENCE, Bioinformatics, 0302 clinical medicine, PARKINSONS-DISEASE, Polymorphism (computer science), Pregnancy, infant head circumference, chromosome 12q24, Cap -- Malalties, health care economics and organizations, Cap -- Creixement, 0303 health sciences, 3. Good health, genetics [European Continental Ancestry Group], genetics [Chromosomes, Human, Pair 12], genetics [Polymorphism, Single Nucleotide], Medical genetics, Female, chromosome 12q15, BRAIN-DEVELOPMENT, Genetic Markers, medicine.medical_specialty, DISORDERS, Single-nucleotide polymorphism, Biology, etiology [Pregnancy Complications], Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, ddc:570, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, Institut für Biochemie und Biologie, 030304 developmental biology, Genetic association, Cromosomes humans, pathology [Pregnancy Complications], Chromosomes, Human, Pair 12, IDENTIFICATION, growth & development [Head], MUTATIONS, Polimorfisme genètic, Chromosome, Infant, ta3121, medicine.disease, brain growth, GENE, Pregnancy Complications, Genetic marker, Genetic Loci, FETAL-GROWTH, Head, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life. Major funding for the research in this paper is as follows: Academy of Finland (project grants 104781, 120315, 129269, 1114194 and Center of Excellence in Complex Disease Genetics); Canadian Institutes of Health Research (grant MOP 82893); The European Community’s Seventh Framework Programme (FP7/2007-2013), ENGAGE project, grant agreement HEALTH-F4-2007-201413; Instituto de Salud Carlos III (FIS PI081151, and PS09/00432); Medical Research Council UK (G0500539, G0600331, PrevMetSyn/Salve/MRC, G0600705); National Health and Medical Research Council of Australia (ID 403981 and ID 003209); Netherlands Organisation for Scientific Research (NOW)/Netherlands Organisation for Health Reseacrh and Development (ZonMw) (grants SPI 56-464-14192, 904-61-090, 904-61-193, 480-04-004, 400-05-717); NHLBI (grant 5R01HL087679-02 through the STAMPEED program (1RL1MH083268-01)); NIH (grant 1R01HD056465-01A1); University of Leipzig; Wellcome Trust (project grant GR069224); Western Australian DNA Bank; Western Australian Genetic Epidemiology Resource; ZonMW (grant 21000074). Personal funding is as follows: H.R.T by the Dutch Kidney Foundation (C08.2251) , S.D. by the Medical Research Council UK (G0500539, PrevMetSyn, and PS0476), R.M.F by a Sir Henry Wellcome Postdoctoral Fellowship (Wellcome Trust grant: 085541/Z/08/Z), D.M.E. by a Medical Research Council New Investigator Award (MRC G0800582 to D.M.E.), J.P.K. by a Wellcome Trust 4-year PhD studentship (WT083431MA), I.P. and J.F.B. in part supported by the European Community’s ENGAGE grant HEALTH-F4-2007-201413. A.T.H. is employed as a core member of the Peninsula NIHR Clinical Research Facility, V.W.V.J by the Netherlands Organization for Health Research (ZonMw 90700303, 916.10159)

Published
2012
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2. Common variants at 6q22 and 17q21 are associated with intracranial volume

Author

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., 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., and Wilson, James F.

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 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., Erratum published in Nature Genetics 2012 Vol 44 no 6 p732.

Published
2012
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3. Common variants at 12q15 and 12q24 are associated with infant head circumference

Author

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Moller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Monica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bonnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Mueller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Breteler, Monique M. B., Debette, Stephanie, Fornage, Myriam, Gudnason, Vilmundur, Launer, Lenore J., van der Lugt, Aad, Mosley, Thomas H., Jr., Seshadri, Sudha, Smith, Albert V., Vernooij, Meike W., Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Grant, Struan F. A., Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iniguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Molgaard, Anne, Newnham, John P., Palmer, Lyle J., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Standl, Marie, Uitterlinden, Andre G., Wichmann, H-Erich, Vissing, Nadja Hawwa, DeCarli, Charles, van Duijn, Cornelia M., McCarthy, Mark I., Koppelman, Gerard H., Estivill, Xavier, Hattersley, Andrew T., Melbye, Mads, Bisgaard, Hans, Pennell, Craig E., Widen, Elisabeth, Hakonarson, Hakon, Smith, George Davey, Heinrich, Joachim, Jarvelin, Marjo-Riitta, Jaddoe, Vincent W. V., Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, 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, White, Scott, 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., Schmidt, Reinhold, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Jr., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Jr., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, Harris, Tamara B., Meeks, William M., van Buchem, Mark A., Catellier, Diane, Windham, B. Gwen, Wolf, Philip A., Schmidt, Helena, Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Moller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Monica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bonnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Mueller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Breteler, Monique M. B., Debette, Stephanie, Fornage, Myriam, Gudnason, Vilmundur, Launer, Lenore J., van der Lugt, Aad, Mosley, Thomas H., Jr., Seshadri, Sudha, Smith, Albert V., Vernooij, Meike W., Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Grant, Struan F. A., Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iniguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Molgaard, Anne, Newnham, John P., Palmer, Lyle J., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Standl, Marie, Uitterlinden, Andre G., Wichmann, H-Erich, Vissing, Nadja Hawwa, DeCarli, Charles, van Duijn, Cornelia M., McCarthy, Mark I., Koppelman, Gerard H., Estivill, Xavier, Hattersley, Andrew T., Melbye, Mads, Bisgaard, Hans, Pennell, Craig E., Widen, Elisabeth, Hakonarson, Hakon, Smith, George Davey, Heinrich, Joachim, Jarvelin, Marjo-Riitta, Jaddoe, Vincent W. V., Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, 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, White, Scott, 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., Schmidt, Reinhold, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Jr., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Jr., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, Harris, Tamara B., Meeks, William M., van Buchem, Mark A., Catellier, Diane, Windham, B. Gwen, Wolf, Philip A., and Schmidt, Helena

Abstract

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

Published
2012
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4. Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume

Author

Ikram, M Arfan, primary, Fornage, Myriam, additional, Smith, Albert V, additional, Seshadri, Sudha, additional, Schmidt, Reinhold, additional, Debette, Stéphanie, additional, Vrooman, Henri A, additional, Sigurdsson, Sigurdur, additional, Ropele, Stefan, additional, Taal, H Rob, additional, Mook-Kanamori, Dennis O, additional, Coker, Laura H, additional, Longstreth, W T, additional, Niessen, Wiro J, additional, DeStefano, Anita L, additional, Beiser, Alexa, additional, Zijdenbos, Alex P, additional, Struchalin, Maksim, additional, Jack, Clifford R, additional, Rivadeneira, Fernando, additional, Uitterlinden, Andre G, additional, Knopman, David S, additional, Hartikainen, Anna-Liisa, additional, Pennell, Craig E, additional, Thiering, Elisabeth, additional, Steegers, Eric A P, additional, Hakonarson, Hakon, additional, Heinrich, Joachim, additional, Palmer, Lyle J, additional, Jarvelin, Marjo-Riitta, additional, McCarthy, Mark I, additional, Grant, Struan F A, additional, St Pourcain, Beate, additional, Timpson, Nicholas J, additional, Smith, George Davey, additional, Sovio, Ulla, additional, Nalls, Mike A, additional, Au, Rhoda, additional, Hofman, Albert, additional, Gudnason, Haukur, additional, van der Lugt, Aad, additional, Harris, Tamara B, additional, Meeks, William M, additional, Vernooij, Meike W, additional, van Buchem, Mark A, additional, Catellier, Diane, additional, Jaddoe, Vincent W V, additional, Gudnason, Vilmundur, additional, Windham, B Gwen, additional, Wolf, Philip A, additional, van Duijn, Cornelia M, additional, Mosley, Thomas H, additional, Schmidt, Helena, additional, Launer, Lenore J, additional, Breteler, Monique M B, additional, and DeCarli, Charles, additional

Published
2012
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5. Common variants at 6q22 and 17q21 are associated with intracranial volume (vol 44, pg 539, 2012)

Author

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, Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., Mark van Buchem, Catellier, Diane, Jaddoe, Vincent W. V., Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., Decarli, Charles, Radiology & Nuclear Medicine, Epidemiology, Erasmus MC other, Internal Medicine, Obstetrics & Gynecology, and Public Health

6. Common variants at 6q22 and 17q21 are associated with intracranial volume (vol 44, pg 539, 2012)

Author

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, Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., Buchem, Mark A., Catellier, Diane, Jaddoe, Vincent W. V., Vilmundur Gudnason, Windham, B. Gwen, Wolf, Philip A., Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., Decarli, Charles, Egg, Early Growth Genetics, and Cohorts Heart Aging Res Genomic

7. Common variants at 6q22 and 17q21 are associated with intracranial volume

Author

Ikram, M. Arfan, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, 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., Pourcain, Beate St, 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, van Beijsterveldt, 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, Jan Hottenga, Jouke, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpeläinen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimäki, 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, Valcárcel, 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, Sørensen, Thorkild I. A., Wilson, James F., Ikram, M. Arfan, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, 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., Pourcain, Beate St, 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, van Beijsterveldt, 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, Jan Hottenga, Jouke, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpeläinen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimäki, 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, Valcárcel, 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, Sørensen, Thorkild I. A., and Wilson, James F.

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.

8. Common variants at 12q15 and 12q24 are associated with infant head circumference

Author

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, 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, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A., Wilson, James F., Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, 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, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A., and Wilson, James F.

Abstract

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10−9) and rs1042725 on chromosome 12q15 (P = 2.8 × 10−10) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height1, their effects on infant head circumference were largely independent of height (P = 3.8 × 10−7 for rs7980687 and P = 1.3 × 10−7 for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 × 10−6). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume2, Parkinson's disease and other neurodegenerative diseases3, 4, 5, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

9. Common variants at 6q22 and 17q21 are associated with intracranial volume.

Author

Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, Mook-Kanamori DO, Coker LH, Longstreth WT Jr, Niessen WJ, DeStefano AL, Beiser A, Zijdenbos AP, Struchalin M, Jack CR Jr, Rivadeneira F, Uitterlinden AG, Knopman DS, Hartikainen AL, Pennell CE, Thiering E, Steegers EA, Hakonarson H, Heinrich J, Palmer LJ, Jarvelin MR, McCarthy MI, Grant SF, St Pourcain B, Timpson NJ, Smith GD, Sovio U, Nalls MA, Au R, Hofman A, Gudnason H, van der Lugt A, Harris TB, Meeks WM, Vernooij MW, van Buchem MA, Catellier D, Jaddoe VW, Gudnason V, Windham BG, Wolf PA, van Duijn CM, Mosley TH Jr, Schmidt H, Launer LJ, Breteler MM, and DeCarli C

Subjects
Aged, Aged, 80 and over, Female, Genetic Loci, Genetic Markers, Head physiopathology, Humans, Infant, Male, Brain physiopathology, Chromosomes, Human, Pair 17 genetics, Chromosomes, Human, Pair 6 genetics, Genome-Wide Association Study, Polymorphism, Single Nucleotide 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.

Published
2012
Full Text
View/download PDF

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