ArticleHuman molecular genetics2015
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
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Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 4 of them syntheses that pooled it.
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69citing papers in PubMed, 4 pooled it
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Who cites it
69 citing papers in PubMed, 4 syntheses or guidelines pooled it.
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- Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growth.Nature communications · 2021Pooled it
- Mendelian randomization suggests that head circumference, but not birth weight and length, associates with intelligence.Brain and behavior · 2021Pooled it
- Admixture mapping and fine-mapping of birth weight loci in the Black Women's Health Study.Human genetics · 2018Trial
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- Genetic associations link lung cancer liability to brain imaging phenotypes and nominate an FN1-associated tumor-oligodendrocyte program in small-cell lung cancer.Frontiers in oncology · 2026Article
- Modeling the genomic architecture of adiposity and anthropometrics across the lifespan.Nature communications · 2025Article
- Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.Asian journal of andrology · 2025Article
- Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes.PLoS genetics · 2025Article
- LCoRL Regulates Growth and Metabolism.Endocrinology · 2024Article
- Mendelian randomization analyses reveal causal relationships between brain functional networks and risk of psychiatric disorders.Nature human behaviour · 2024Article
- Association ofMolecular genetics and metabolism reports · 2024Article
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- Neurodevelopmental disorders as a risk factor for temporomandibular disorder: evidence from Mendelian randomization studies.Frontiers in genetics · 2024Article
- Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.The Journal of investigative dermatology · 2023Article
- A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank.Communications biology · 2023Article
- Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.Arthritis & rheumatology (Hoboken, N.J.) · 2023Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
120 authors.
Ralf J P van der ValkDepartment of Epidemiology, Department of Paediatrics, The Generation R Study Group.
Eskil Kreiner-MøllerCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Marjolein N KooijmanDepartment of Epidemiology, Department of Paediatrics, The Generation R Study Group.
Mònica GuxensCentre for Research in Environmental Epidemiology (CREAL), Barcelona, Spain, CIBER Epidemiología y Salud Pública (CIBERESP), Spain, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain.
Evangelia StergiakouliMRC Integrative Epidemiology Unit .
Annika SääfInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Jonathan P BradfieldCenter for Applied Genomics, Abramson Research Center.
Frank GellerDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
M Geoffrey HayesDivision of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Diana L CousminerInstitute for Molecular Medicine Finland.
Antje KörnerCenter of Pediatric Research, University Hospital Center Leipzig, University of Leipzig, Leipzig, Germany.
Elisabeth ThieringDivision of Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, University of Munich Medical Center, Munich, Germany, Institute of Epidemiology I.
John A CurtinCentre for Respiratory Medicine and Allergy, Institute of Inflammation and Repair, University of Manchester and University Hospital of South Manchester, Manchester Academic Health Sciences Centre, Manchester, UK.
Ronny MyhreDivision Epidemiology, Department Genes and Environment.
Ville HuikariInstitute of Health Sciences.
Raimo JoroInstitute of Biomedicine, Physiology.
Marjan KerkhofDepartment of Epidemiology, Groningen Research Institute for Asthma and COPD.
Nicole M WarringtonSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia, University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.
Niina PitkänenResearch Centre of Applied and Preventive Cardiovascular Medicine.
Ioanna NtallaDepartment of Health Sciences, University of Leicester, Leicester LE1 7RH, UK, Department of Nutrition and Dietetics, Harokopio University of Athens, Athens 11527, Greece.
Momoko HorikoshiWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK.
Riitta VeijolaDepartment of Pediatrics, Medical Research Center.
Rachel M FreathyUniversity of Exeter Medical School, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.
Yik-Ying TeoSaw Swee Hock School of Public Health, Life Science Institute, National University of Singapore, Singapore, Genome Institute of Singapore, Agency for Science, Technology and Research.
Sheila J BartonMRC Lifecourse Epidemiology Unit.
David M EvansMRC Integrative Epidemiology Unit , University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.
John P KempMRC Integrative Epidemiology Unit , University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.
Beate St PourcainMRC Integrative Epidemiology Unit , Avon Longitudinal Study of Parents and Children (ALSPAC), School of Social and Community Medicine, School of Oral and Dental Sciences, University of Bristol, Bristol, UK.
Susan M RingMRC Integrative Epidemiology Unit , Avon Longitudinal Study of Parents and Children (ALSPAC), School of Social and Community Medicine.
George Davey SmithMRC Integrative Epidemiology Unit .
Anna BergströmInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Inger KullDepartment of Clinical Science and Education, Södersjukhuset, Stockholm, Sweden, Sachs' Children's Hospital, Stockholm, Sweden.
Hakon HakonarsonCenter for Applied Genomics, Abramson Research Center, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Frank D MentchCenter for Applied Genomics, Abramson Research Center.
Hans BisgaardCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Bo ChawesCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Jakob StokholmCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Johannes WaageCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Patrick EriksenCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Astrid SevelstedCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Mads MelbyeDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark, Department of Medicine, Stanford School of Medicine, Stanford, USA.
Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium
Cornelia M van DuijnDepartment of Epidemiology.
Carolina Medina-GomezDepartment of Epidemiology, The Generation R Study Group, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Albert HofmanDepartment of Epidemiology, The Generation R Study Group.
Johan C de JongsteDepartment of Paediatrics, The Generation R Study Group.
H Rob TaalDepartment of Epidemiology, Department of Paediatrics.
André G UitterlindenDepartment of Epidemiology, The Generation R Study Group, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Genetic Investigation of ANthropometric Traits (GIANT) Consortium
Loren L ArmstrongDivision of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Johan ErikssonInstitute for Molecular Medicine Finland.
Aarno PalotieInstitute for Molecular Medicine Finland, Analytic and Translational Genetics Unit, Department of Medicine, Program in Medical and Population Genetics, Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Mariona BustamanteCentre for Research in Environmental Epidemiology (CREAL), Barcelona, Spain, CIBER Epidemiología y Salud Pública (CIBERESP), Spain, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain, Centre for Genomic Regulation (CRG), Barcelona, Spain.
Xavier EstivillCIBER Epidemiología y Salud Pública (CIBERESP), Spain, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain, Centre for Genomic Regulation (CRG), Barcelona, Spain, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain.
Juan R GonzalezCentre for Research in Environmental Epidemiology (CREAL), Barcelona, Spain, CIBER Epidemiología y Salud Pública (CIBERESP), Spain, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain.
Sabrina LlopCIBER Epidemiología y Salud Pública (CIBERESP), Spain, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, FISABIO-Public Health, Valencia, Spain.
Wieland KiessCenter of Pediatric Research, University Hospital Center Leipzig, University of Leipzig, Leipzig, Germany.
Anubha MahajanWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Claudia FlexederInstitute of Epidemiology I.
Carla M T TieslerDivision of Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, University of Munich Medical Center, Munich, Germany, Institute of Epidemiology I.
Clare S MurrayCentre for Respiratory Medicine and Allergy, Institute of Inflammation and Repair, University of Manchester and University Hospital of South Manchester, Manchester Academic Health Sciences Centre, Manchester, UK.
Angela SimpsonCentre for Respiratory Medicine and Allergy, Institute of Inflammation and Repair, University of Manchester and University Hospital of South Manchester, Manchester Academic Health Sciences Centre, Manchester, UK.
Per MagnusDivision Epidemiology, Norwegian Institute of Public Health, Oslo, Norway.
Verena SengpielDepartment Obstetrics and Gynecology, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden.
Anna-Liisa HartikainenInstitute of Clinical Medicine/Obstetrics and Gynecology.
Sirkka Keinanen-KiukaanniemiInstitute of Health Sciences.
Alexandra LewinDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPE) Centre for Environment and Health.
Alexessander Da Silva Couto AlvesDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPE) Centre for Environment and Health.
Alexandra I BlakemoreSection of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Faculty of Medicine, Imperial College, London W12 0NN, UK.
Jessica L BuxtonSection of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Faculty of Medicine, Imperial College, London W12 0NN, UK.
Marika KaakinenInstitute of Health Sciences, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPE) Centre for Environment and Health, Biocenter Oulu, University of Oulu, Oulu, Finland.
Alina RodriguezDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPE) Centre for Environment and Health, Department of Psychology, Mid Sweden University, Östersund, Sweden.
Sylvain SebertInstitute of Health Sciences.
Marja VaarasmakiDepartment of Obstetrics and Gynecology and MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Timo LakkaInstitute of Biomedicine, Physiology, Kuopio Research Institute of Exercise Medicine, Kuopio, Finland, Department of Clinical Physiology and Nuclear Medicine, Kuopio University Hospital, Kuopio, Finland.
Virpi LindiInstitute of Biomedicine, Physiology.
Ulrike GehringInstitute for Risk Assessment Sciences, Utrecht University, Utrecht, The Netherlands.
Dirkje S PostmaGroningen Research Institute for Asthma and COPD, Department of Pulmonology.
Wei AngSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
John P NewnhamSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, Finland, Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere, Finland.
Katja PahkalaResearch Centre of Applied and Preventive Cardiovascular Medicine, University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.
Olli T RaitakariResearch Centre of Applied and Preventive Cardiovascular Medicine, Department of Clinical Physiology and Nuclear Medicine.
Kalliope PanoutsopoulouWellcome Trust Sanger Institute, The Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1HH, UK.
Eleftheria ZegginiWellcome Trust Sanger Institute, The Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1HH, UK.
Dorret I BoomsmaDepartment of Biological Psychology, VU University, Amsterdam, The Netherlands, EMGO Institute for Health and Care Research, Amsterdam, The Netherlands, Neuroscience Campus Amsterdam, The Netherlands.
Maria Groen-BlokhuisDepartment of Biological Psychology, VU University, Amsterdam, The Netherlands, EMGO Institute for Health and Care Research, Amsterdam, The Netherlands, Neuroscience Campus Amsterdam, The Netherlands.
Jorma IlonenImmunogenetics Laboratory, University of Turku, Turku, Finland, Department of Clinical Microbiology, University of Eastern Finland, Kuopio, Finland.
Lude FrankeDepartment of Genetics, University of Groningen, University Medical Centre Groningen, The Netherlands.
Joel N HirschhornDivision of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, USA, Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA, Department of Genetics, Harvard Medical School, USA.
Tune H PersDivision of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, USA, Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA, Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Denmark.
Liming LiangDepartment of Pediatrics, Tampere University Hospital, Tampere, Finland.
Jinyan HuangDepartment of Pediatrics, Tampere University Hospital, Tampere, Finland, Shanghai Institute of Hematology, Rui Jin Hospital Affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Berthold HocherInstitute of Nutritional Science, University of Potsdam, Germany, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China, Center for Cardiovascular Research/Institute of Pharmacology, Charité, Berlin, Germany.
Mikael KnipDiabetes and Obesity Research Program, University of Helsinki, Helsinki, Finland, Department of Pediatrics, Tampere University Hospital, Tampere, Finland, Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Seang-Mei SawSaw Swee Hock School of Public Health, Singapore Eye Research Institute, Singapore, Duke-NUS Graduate Medical School, Singapore.
John W HollowayHuman Genetics and Genomic Medicine, Human Development & Health, Faculty of Medicine, University of Southampton, UK.
Erik MelénInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, Sachs' Children's Hospital, Stockholm, Sweden.
Struan F A GrantCenter for Applied Genomics, Abramson Research Center, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
William L LoweDivision of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Elisabeth WidénInstitute for Molecular Medicine Finland.
Elena SergeyevCenter of Pediatric Research, University Hospital Center Leipzig, University of Leipzig, Leipzig, Germany.
Harald GrallertInstitute of Epidemiology II, Research Unit for Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Adnan CustovicCentre for Respiratory Medicine and Allergy, Institute of Inflammation and Repair, University of Manchester and University Hospital of South Manchester, Manchester Academic Health Sciences Centre, Manchester, UK.
Bo JacobssonDivision Epidemiology, Department Genes and Environment, Department Obstetrics and Gynecology, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden.
Marjo-Riitta JarvelinInstitute of Health Sciences, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPE) Centre for Environment and Health, Biocenter Oulu, University of Oulu, Oulu, Finland, Unit of Primary Care, Oulu University Hospital, Kajaanintie 50, P.O.Box 20, FI-90220, Oulu 90029 OYS, Finland, Department of Children and Young People and Families, National Institute for Health and Welfare, Aapistie 1, Box 310, Oulu FI-90101, Finland and.
Mustafa AtalayInstitute of Biomedicine, Physiology.
Gerard H KoppelmanGroningen Research Institute for Asthma and COPD, Beatrix Children's Hospital, Pediatric Pulmonology and Pediatric Allergy, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Craig E PennellSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
Harri NiinikoskiResearch Centre of Applied and Preventive Cardiovascular Medicine, Department of Pediatrics, Turku University Hospital, Turku, Finland.
George V DedoussisDepartment of Nutrition and Dietetics, Harokopio University of Athens, Athens 11527, Greece.
Mark I MccarthyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK, Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LJ, UK.
Timothy M FraylingUniversity of Exeter Medical School, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.
Jordi SunyerCentre for Research in Environmental Epidemiology (CREAL), Barcelona, Spain, CIBER Epidemiología y Salud Pública (CIBERESP), Spain, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain.
Nicholas J TimpsonMRC Integrative Epidemiology Unit .
Fernando RivadeneiraDepartment of Epidemiology, The Generation R Study Group, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Klaus BønnelykkeCopenhagen Prospective Studies on Asthma in Childhood, Faculty of Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark.
Vincent W V JaddoeDepartment of Epidemiology, Department of Paediatrics, The Generation R Study Group, v.jaddoe@erasmusmc.nl.
Early Growth Genetics (EGG) Consortium
Funding
Gene-Environment Interactions in an Autism Birth CohortU01NS047537 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LIPKIN, W. IAN · 2003 to 2013
$27.0MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MA Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4MHyperglycemia and Adverse Pregnancy Outcome (HAPO)R01HD034243 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI METZGER, BOYD E · 1999 to 2010
$16.2MCell Interactions in the Inflamed Intestinal MucosaR01DK075787 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI JOEL N HIRSCHHORN · 2007 to 2026
$13.1MGenome Wide Association Study for Childhood ObesityR01HD056465 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2008 to 2024
$9.5MGenome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6MHAPO: DATA COORDINATING CENTERR01HD034242 · NICHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DYER, ALAN R · 1999 to 2007
$3.0MGenome-wide association studies of prematurity and its complicationsU01HG004423 · NHGRI · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2007 to 2010
$1.5MGWA Mapping: Maternal Metabolism-Birth Weight InteractionsU01HG004415 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LOWE, WILLIAM L · 2007 to 2009
$1.1MReplication of GWAS for Maternal Glycemia, Birthweight and their InteractionR01CA141688 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LOWE, WILLIAM L · 2009 to 2009
$399kMedical Research Council G0601361Medical Research Council MC_PC_15018Medical Research Council MC_UP_A620_1017Medical Research Council MC_UU_12011/4Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/4Medical Research Council MR/K002449/1Medical Research Council MR/K002449/2Medical Research Council MR/K014536/1NCI NIH HHS R01 CA141688NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004415NHGRI NIH HHS U01 HG004423NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004446NICHD NIH HHS R01 HD034242NICHD NIH HHS R01 HD034243NICHD NIH HHS R01 HD056465NIDDK NIH HHS R01 DK075787NIEHS NIH HHS N01 ES075558NINDS NIH HHS U01 NS047537Wellcome Trust 098381Wellcome Trust 102215
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 × 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; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 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.
Indexed as
Genetic Association StudiesGenetic VariationAdaptor Proteins, Signal TransducingAdultAge FactorsAllelesBody HeightComputational BiologyDatabases, GeneticGenotypeHumansInfant, NewbornMembrane ProteinsPhenotypePolymorphism, Single NucleotideQuantitative Trait, HeritableAdaptor Proteins, Signal TransducingDCST2 protein, humanMembrane Proteins
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