TY  - JOUR
A1  - Ikram, M. Arfan
A1  - Fornage, Myriam
A1  - Smith, Albert V.
A1  - Seshadri, Sudha
A1  - Schmidt, Reinhold
A1  - Debette, Stephanie
A1  - Vrooman, Henri A.
A1  - Sigurdsson, Sigurdur
A1  - Ropele, Stefan
A1  - Taal, H. Rob
A1  - Mook-Kanamori, Dennis O.
A1  - Coker, Laura H.
A1  - Longstreth, W. T.
A1  - Niessen, Wiro J.
A1  - DeStefano, Anita L.
A1  - Beiser, Alexa
A1  - Zijdenbos, Alex P.
A1  - Struchalin, Maksim
A1  - Jack, Clifford R.
A1  - Rivadeneira, Fernando
A1  - Uitterlinden, Andre G.
A1  - Knopman, David S.
A1  - Hartikainen, Anna-Liisa
A1  - Pennell, Craig E.
A1  - Thiering, Elisabeth
A1  - Steegers, Eric A. P.
A1  - Hakonarson, Hakon
A1  - Heinrich, Joachim
A1  - Palmer, Lyle J.
A1  - Jarvelin, Marjo-Riitta
A1  - McCarthy, Mark I.
A1  - Grant, Struan F. A.
A1  - St Pourcain, Beate
A1  - Timpson, Nicholas J.
A1  - Smith, George Davey
A1  - Sovio, Ulla
A1  - Nalls, Mike A.
A1  - Au, Rhoda
A1  - Hofman, Albert
A1  - Gudnason, Haukur
A1  - van der Lugt, Aad
A1  - Harris, Tamara B.
A1  - Meeks, William M.
A1  - Vernooij, Meike W.
A1  - van Buchem, Mark A.
A1  - Catellier, Diane
A1  - Jaddoe, Vincent W. V.
A1  - Gudnason, Vilmundur
A1  - Windham, B. Gwen
A1  - Wolf, Philip A.
A1  - van Duijn, Cornelia M.
A1  - Mosley, Thomas H.
A1  - Schmidt, Helena
A1  - Launer, Lenore J.
A1  - Breteler, Monique M. B.
A1  - DeCarli, Charles
A1  - Adair, Linda S.
A1  - Ang, Wei
A1  - Atalay, Mustafa
A1  - vanBeijsterveldt, Toos
A1  - Bergen, Nienke
A1  - Benke, Kelly
A1  - Berry, Diane J.
A1  - Coin, Lachlan
A1  - Davis, Oliver S. P.
A1  - Elliott, Paul
A1  - Flexeder, Claudia
A1  - Frayling, Tim
A1  - Gaillard, Romy
A1  - Groen-Blokhuis, Maria
A1  - Goh, Liang-Kee
A1  - Haworth, Claire M. A.
A1  - Hadley, Dexter
A1  - Hebebrand, Johannes
A1  - Hinney, Anke
A1  - Hirschhorn, Joel N.
A1  - Holloway, John W.
A1  - Holst, Claus
A1  - Hottenga, Jouke Jan
A1  - Horikoshi, Momoko
A1  - Huikari, Ville
A1  - Hypponen, Elina
A1  - Kilpelainen, Tuomas O.
A1  - Kirin, Mirna
A1  - Kowgier, Matthew
A1  - Lakka, Hanna-Maaria
A1  - Lange, Leslie A.
A1  - Lawlor, Debbie A.
A1  - Lehtimaki, Terho
A1  - Lewin, Alex
A1  - Lindgren, Cecilia
A1  - Lindi, Virpi
A1  - Maggi, Reedik
A1  - Marsh, Julie
A1  - Middeldorp, Christel
A1  - Millwood, Iona
A1  - Murray, Jeffrey C.
A1  - Nivard, Michel
A1  - Nohr, Ellen Aagaard
A1  - Ntalla, Ioanna
A1  - Oken, Emily
A1  - Panoutsopoulou, Kalliope
A1  - Pararajasingham, Jennifer
A1  - Rodriguez, Alina
A1  - Salem, Rany M.
A1  - Sebert, Sylvain
A1  - Siitonen, Niina
A1  - Strachan, David P.
A1  - Teo, Yik-Ying
A1  - Valcarcel, Beatriz
A1  - Willemsen, Gonneke
A1  - Zeggini, Eleftheria
A1  - Boomsma, Dorret I.
A1  - Cooper, Cyrus
A1  - Gillman, Matthew
A1  - Hocher, Berthold
A1  - Lakka, Timo A.
A1  - Mohlke, Karen L.
A1  - Dedoussis, George V.
A1  - Ong, Ken K.
A1  - Pearson, Ewan R.
A1  - Price, Thomas S.
A1  - Power, Chris
A1  - Raitakari, Olli T.
A1  - Saw, Seang-Mei
A1  - Scherag, Andre
A1  - Simell, Olli
A1  - Sorensen, Thorkild I. A.
A1  - Wilson, James F.
T1  - Common variants at 6q22 and 17q21 are associated with intracranial volume
JF  - Nature genetics
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.
Y1  - 2012
U6  - https://doi.org/10.1038/ng.2245
SN  - 1061-4036
VL  - 44
IS  - 5
SP  - 539
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - van der Valk, Ralf J. P.
A1  - Kreiner-Moller, Eskil
A1  - Kooijman, Marjolein N.
A1  - Guxens, Monica
A1  - Stergiakouli, Evangelia
A1  - Saaf, Annika
A1  - Bradfield, Jonathan P.
A1  - Geller, Frank
A1  - Hayes, M. Geoffrey
A1  - Cousminer, Diana L.
A1  - Koerner, Antje
A1  - Thiering, Elisabeth
A1  - Curtin, John A.
A1  - Myhre, Ronny
A1  - Huikari, Ville
A1  - Joro, Raimo
A1  - Kerkhof, Marjan
A1  - Warrington, Nicole M.
A1  - Pitkanen, Niina
A1  - Ntalla, Ioanna
A1  - Horikoshi, Momoko
A1  - Veijola, Riitta
A1  - Freathy, Rachel M.
A1  - Teo, Yik-Ying
A1  - Barton, Sheila J.
A1  - Evans, David M.
A1  - Kemp, John P.
A1  - St Pourcain, Beate
A1  - Ring, Susan M.
A1  - Smith, George Davey
A1  - Bergstrom, Anna
A1  - Kull, Inger
A1  - Hakonarson, Hakon
A1  - Mentch, Frank D.
A1  - Bisgaard, Hans
A1  - Chawes, Bo Lund Krogsgaard
A1  - Stokholm, Jakob
A1  - Waage, Johannes
A1  - Eriksen, Patrick
A1  - Sevelsted, Astrid
A1  - Melbye, Mads
A1  - van Duijn, Cornelia M.
A1  - Medina-Gomez, Carolina
A1  - Hofman, Albert
A1  - de Jongste, Johan C.
A1  - Taal, H. Rob
A1  - Uitterlinden, Andre G.
A1  - Armstrong, Loren L.
A1  - Eriksson, Johan
A1  - Palotie, Aarno
A1  - Bustamante, Mariona
A1  - Estivill, Xavier
A1  - Gonzalez, Juan R.
A1  - Llop, Sabrina
A1  - Kiess, Wieland
A1  - Mahajan, Anubha
A1  - Flexeder, Claudia
A1  - Tiesler, Carla M. T.
A1  - Murray, Clare S.
A1  - Simpson, Angela
A1  - Magnus, Per
A1  - Sengpiel, Verena
A1  - Hartikainen, Anna-Liisa
A1  - Keinanen-Kiukaanniemi, Sirkka
A1  - Lewin, Alexandra
A1  - Alves, Alexessander Da Silva Couto
A1  - Blakemore, Alexandra I. F.
A1  - Buxton, Jessica L.
A1  - Kaakinen, Marika
A1  - Rodriguez, Alina
A1  - Sebert, Sylvain
A1  - Vaarasmaki, Marja
A1  - Lakka, Timo
A1  - Lindi, Virpi
A1  - Gehring, Ulrike
A1  - Postma, Dirkje S.
A1  - Ang, Wei
A1  - Newnham, John P.
A1  - Lyytikainen, Leo-Pekka
A1  - Pahkala, Katja
A1  - Raitakari, Olli T.
A1  - Panoutsopoulou, Kalliope
A1  - Zeggini, Eleftheria
A1  - Boomsma, Dorret I.
A1  - Groen-Blokhuis, Maria
A1  - Ilonen, Jorma
A1  - Franke, Lude
A1  - Hirschhorn, Joel N.
A1  - Pers, Tune H.
A1  - Liang, Liming
A1  - Huang, Jinyan
A1  - Hocher, Berthold
A1  - Knip, Mikael
A1  - Saw, Seang-Mei
A1  - Holloway, John W.
A1  - Melen, Erik
A1  - Grant, Struan F. A.
A1  - Feenstra, Bjarke
A1  - Lowe, William L.
A1  - Widen, Elisabeth
A1  - Sergeyev, Elena
A1  - Grallert, Harald
A1  - Custovic, Adnan
A1  - Jacobsson, Bo
A1  - Jarvelin, Marjo-Riitta
A1  - Atalay, Mustafa
A1  - Koppelman, Gerard H.
A1  - Pennell, Craig E.
A1  - Niinikoski, Harri
A1  - Dedoussis, George V.
A1  - Mccarthy, Mark I.
A1  - Frayling, Timothy M.
A1  - Sunyer, Jordi
A1  - Timpson, Nicholas J.
A1  - Rivadeneira, Fernando
A1  - Bonnelykke, Klaus
A1  - Jaddoe, Vincent W. V.
T1  - A novel common variant in DCST2 is associated with length in early life and height in adulthood
JF  - Human molecular genetics
N2  - Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
Y1  - 2015
U6  - https://doi.org/10.1093/hmg/ddu510
SN  - 0964-6906
SN  - 1460-2083
VL  - 24
IS  - 4
SP  - 1155
EP  - 1168
PB  - Oxford Univ. Press
CY  - Oxford
ER  - 
TY  - GEN
A1  - Beaumont, Robin N.
A1  - Warrington, Nicole M.
A1  - Cavadino, Alana
A1  - Tyrrell, Jessica
A1  - Nodzenski, Michael
A1  - Horikoshi, Momoko
A1  - Geller, Frank
A1  - Myhre, Ronny
A1  - Richmond, Rebecca C.
A1  - Paternoster, Lavinia
A1  - Bradfield, Jonathan P.
A1  - Kreiner-Møller, Eskil
A1  - Huikari, Ville
A1  - Metrustry, Sarah
A1  - Lunetta, Kathryn L.
A1  - Painter, Jodie N.
A1  - Hottenga, Jouke-Jan
A1  - Allard, Catherine
A1  - Barton, Sheila J.
A1  - Espinosa, Ana
A1  - Marsh, Julie A.
A1  - Potter, Catherine
A1  - Zhang, Ge
A1  - Ang, Wei
A1  - Berry, Diane J.
A1  - Bouchard, Luigi
A1  - Das, Shikta
A1  - Hakonarson, Hakon
A1  - Heikkinen, Jani
A1  - Helgeland, Øyvind
A1  - Hocher, Berthold
A1  - Hofman, Albert
A1  - Inskip, Hazel M.
A1  - Jones, Samuel E.
A1  - Kogevinas, Manolis
A1  - Lind, Penelope A.
A1  - Marullo, Letizia
A1  - Medland, Sarah E.
A1  - Murray, Anna
A1  - Murray, Jeffrey C.
A1  - Njølstad, Pa ̊l R.
A1  - Nohr, Ellen A.
A1  - Reichetzeder, Christoph
A1  - Ring, Susan M.
A1  - Ruth, Katherine S.
A1  - Santa-Marina, Loreto
A1  - Scholtens, Denise M.
A1  - Sebert, Sylvain
A1  - Sengpiel, Verena
A1  - Tuke, Marcus A.
A1  - Vaudel, Marc
A1  - Weedon, Michael N.
A1  - Willemsen, Gonneke
A1  - Wood, Andrew R.
A1  - Yaghootkar, Hanieh
A1  - Muglia, Louis J.
A1  - Bartels, Meike
A1  - Relton, Caroline L.
A1  - Pennell, Craig E.
A1  - Chatzi, Leda
A1  - Estivill, Xavier
A1  - Holloway, John W.
A1  - Boomsma, Dorret I.
A1  - Montgomery, Grant W.
A1  - Murabito, Joanne M.
A1  - Spector, Tim D.
A1  - Power, Christine
A1  - Ja ̈rvelin, Marjo-Ritta
A1  - Bisgaard, Hans
A1  - Grant, Struan F.A.
A1  - Sørensen, Thorkild I.A.
A1  - Jaddoe, Vincent W.
A1  - Jacobsson, Bo
A1  - Melbye, Mads
A1  - McCarthy, Mark I.
A1  - Hattersley, Andrew T.
A1  - Hayes, M. Geoffrey
A1  - Frayling, Timothy M.
A1  - Hivert, Marie-France
A1  - Felix, Janine F.
A1  - Hyppo ̈nen, Elina
A1  - Lowe, William L. , Jr
A1  - Evans, David M.
A1  - Lawlor, Debbie A.
A1  - Feenstra, Bjarke
A1  - Freathy, Rachel M.
T1  - Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
T2  - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe
N2  - Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 Â 10 À8 . In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
T3  - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 628 
KW  - alleles
KW  - birth weight
KW  - fetus
KW  - genotype
KW  - mothers
KW  - single nucleotide polymorphism
KW  - genetics
KW  - duration of gestation
KW  - genome-wide association study
KW  - offspring
KW  - biobanks
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-423100
SN  - 1866-8372
IS  - 628
ER  -