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Author van der Valk, R.J.P.; Kreiner-Moller, E.; Kooijman, M.N.; Guxens, M.; Stergiakouli, E.; Saaf, A.; Bradfield, J.P.; Geller, F.; Hayes, M.G.; Cousminer, D.L.; Korner, A.; Thiering, E.; Curtin, J.A.; Myhre, R.; Huikari, V.; Joro, R.; Kerkhof, M.; Warrington, N.M.; Pitkanen, N.; Ntalla, I.; Horikoshi, M.; Veijola, R.; Freathy, R.M.; Teo, Y.-Y.; Barton, S.J.; Evans, D.M.; Kemp, J.P.; St Pourcain, B.; Ring, S.M.; Davey Smith, G.; Bergstrom, A.; Kull, I.; Hakonarson, H.; Mentch, F.D.; Bisgaard, H.; Chawes, B.; Stokholm, J.; Waage, J.; Eriksen, P.; Sevelsted, A.; Melbye, M.; van Duijn, C.M.; Medina-Gomez, C.; Hofman, A.; de Jongste, J.C.; Taal, H.R.; Uitterlinden, A.G.; Armstrong, L.L.; Eriksson, J.; Palotie, A.; Bustamante, M.; Estivill, X.; Gonzalez, J.R.; Llop, S.; Kiess, W.; Mahajan, A.; Flexeder, C.; Tiesler, C.M.T.; Murray, C.S.; Simpson, A.; Magnus, P.; Sengpiel, V.; Hartikainen, A.-L.; Keinanen-Kiukaanniemi, S.; Lewin, A.; Da Silva Couto Alves, A.; Blakemore, A.I.; Buxton, J.L.; Kaakinen, M.; Rodriguez, A.; Sebert, S.; Vaarasmaki, M.; Lakka, T.; Lindi, V.; Gehring, U.; Postma, D.S.; Ang, W.; Newnham, J.P.; Lyytikainen, L.-P.; Pahkala, K.; Raitakari, O.T.; Panoutsopoulou, K.; Zeggini, E.; Boomsma, D.I.; Groen-Blokhuis, M.; Ilonen, J.; Franke, L.; Hirschhorn, J.N.; Pers, T.H.; Liang, L.; Huang, J.; Hocher, B.; Knip, M.; Saw, S.-M.; Holloway, J.W.; Melen, E.; Grant, S.F.A.; Feenstra, B.; Lowe, W.L.; Widen, E.; Sergeyev, E.; Grallert, H.; Custovic, A.; Jacobsson, B.; Jarvelin, M.-R.; Atalay, M.; Koppelman, G.H.; Pennell, C.E.; Niinikoski, H.; Dedoussis, G.V.; Mccarthy, M.I.; Frayling, T.M.; Sunyer, J.; Timpson, N.J.; Rivadeneira, F.; Bonnelykke, K.; Jaddoe, V.W.V. url  doi
  Title A novel common variant in DCST2 is associated with length in early life and height in adulthood Type Journal Article
  Year (down) 2015 Publication Human Molecular Genetics Abbreviated Journal Hum Mol Genet  
  Volume 24 Issue 4 Pages 1155-1168  
  Keywords Adaptor Proteins, Signal Transducing/*genetics/metabolism; Adult; Age Factors; Alleles; Body Height/*genetics; Computational Biology; Databases, Genetic; *Genetic Association Studies; *Genetic Variation; Genotype; Humans; Infant, Newborn; Membrane Proteins/*genetics/metabolism; Phenotype; Polymorphism, Single Nucleotide; Quantitative Trait Loci; Quantitative Trait, Heritable; Reproducibility of Results  
  Abstract 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.  
  Address Department of Epidemiology, Department of Paediatrics, The Generation R Study Group,  
  Corporate Author Early Growth Genetics (EGG) Consortium Thesis  
  Impact Factor 06,393 First Author van der Valk, R.J.P. Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Senior Author Jaddoe, V.W.V.  
  ISSN 0964-6906 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:25281659; PMCID:PMC4447786 Approved no  
  Call Number Serial 29  
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