A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.

Alleles Bone Morphogenetic Protein 7 / genetics Craniosynostoses / genetics DNA Methylation Genes, Reporter Genetic Predisposition to Disease Genetic Variation Genome-Wide Association Study Genotype Humans Introns / genetics Linkage Disequilibrium Polymorphism, Single Nucleotide / genetics Promoter Regions, Genetic / genetics Risk Factors

Journal

Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873

Informations de publication

Date de publication:
Aug 2020
Historique:
received: 07 01 2020
accepted: 25 03 2020
pubmed: 9 4 2020
medline: 18 8 2020
entrez: 9 4 2020
Statut: ppublish

Résumé

Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P ≤ 5 × 10

Identifiants

DOI: 10.1007/s00439-020-02157-z PMID: 32266521 PMC: PMC7415527
pubmed: 32266521
doi: 10.1007/s00439-020-02157-z
pii: 10.1007/s00439-020-02157-z
pmc: PMC7415527
mid: NIHMS1582710
doi:

Substances chimiques

BMP7 protein, human 0
Bone Morphogenetic Protein 7 0

Types de publication

Journal Article Meta-Analysis

Langues

eng

Sous-ensembles de citation

IM

Pagination

1077-1090

Subventions

Organisme : NIDCR NIH HHS
ID : R01 DE016886
Pays : United States
Organisme : NCBDD CDC HHS
ID : U01 DD001223
Pays : United States
Organisme : NIDCR NIH HHS
ID : DE018277
Pays : United States
Organisme : CDC HHS
ID : FOA #DD09-001
Pays : United States
Organisme : CDC HHS
ID : U01 DD001223
Pays : United States
Organisme : Wellcome Trust
ID : 102731
Pays : United Kingdom
Organisme : CDC HHS
ID : FOA #DD13-003
Pays : United States
Organisme : NCBDD CDC HHS
ID : U01 DD001035
Pays : United States
Organisme : CDC HHS
ID : PA #96043
Pays : United States
Organisme : Wellcome Trust
ID : 102731/Z/13/Z
Pays : United Kingdom
Organisme : EPA
ID : EP-D-18-001
Pays : United States
Organisme : NICHD NIH HHS
ID : HHSN275201100001I
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : CDC HHS
ID : PA #02081
Pays : United States
Organisme : CDC HHS
ID : U01 DD001035
Pays : United States
Organisme : HSRD VA
ID : CDP 13-003
Pays : United States
Organisme : NHGRI NIH HHS
ID : HHSN268200782096C
Pays : United States
Organisme : NCBDD CDC HHS
ID : U01 DD001227
Pays : United States
Organisme : NICHD NIH HHS
ID : HHSN275201100001C
Pays : United States
Organisme : National Institute of Child Health and Human Development
ID : HHSN27500005
Organisme : CDC HHS
ID : NOFO #DD18-001
Pays : United States
Organisme : NICHD NIH HHS
ID : HHSN275201100001G
Pays : United States

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Auteurs

Cristina M Justice (CM)

Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.

Araceli Cuellar (A)

Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.

Krithi Bala (K)

Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.

Jeremy A Sabourin (JA)

Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.

Michael L Cunningham (ML)

Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.

Karen Crawford (K)

MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

Julie M Phipps (JM)

MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Yan Zhou (Y)

MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

Deirdre Cilliers (D)

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Jo C Byren (JC)

Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

David Johnson (D)

Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Steven A Wall (SA)

Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Jenny E V Morton (JEV)

West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.

Peter Noons (P)

Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.

Elizabeth Sweeney (E)

Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.

Astrid Weber (A)

Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.

Katie E M Rees (KEM)

Clinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Louise C Wilson (LC)

Clinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Emil Simeonov (E)

National Institute of Pediatrics, Sofia Medical University, Sofia, Bulgaria.

Radka Kaneva (R)

Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.

Nadezhda Yaneva (N)

National Genetic Laboratory, University Hospital of Obstetrics and Gynecology "Maichin Dom", Medical University of Sofia, Sofia, Bulgaria.

Kiril Georgiev (K)

Department of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.

Assen Bussarsky (A)

Department of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.

Craig Senders (C)

Department of Otolaryngology, Head and Neck Surgery, University of California Davis, Sacramento, CA, USA.

Marike Zwienenberg (M)

Department of Neurosurgery, University of California Davis, Sacramento, CA, USA.

James Boggan (J)

Department of Neurosurgery, University of California Davis, Sacramento, CA, USA.

Tony Roscioli (T)

Neuroscience Research Australia, University of New South Wales, Sydney, Australia.

Gianpiero Tamburrini (G)

Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Section of Neurosurgery, Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.

Marta Barba (M)

Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Section of Experimental Biology, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.

Kristin Conway (K)

Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA.

Val C Sheffield (VC)

Department of Pediatrics, Division of Medical Genetics, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.

Lawrence Brody (L)

Gene and Environment Interaction Section, NHGRI, Bethesda, NIHMD, USA.

James L Mills (JL)

Epidemiology Branch, Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD, USA.

Denise Kay (D)

Division of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.

Robert J Sicko (RJ)

Division of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.

Peter H Langlois (PH)

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.

Rachel K Tittle (RK)

Department of Nutritional Sciences, University of Texas at Austin, Austin, TX, USA.

Lorenzo D Botto (LD)

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

Mary M Jenkins (MM)

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

Janine M LaSalle (JM)

Department of Medical Microbiology and Immunology, Genome Center, and MIND Institute, University of California Davis, Davis, CA, USA.

Wanda Lattanzi (W)

Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Section of Experimental Biology, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.

Andrew O M Wilkie (AOM)

MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Alexander F Wilson (AF)

Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.

Paul A Romitti (PA)

Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA. paul-romitti@uiowa.edu.
ORCID: 0000-0001-5393-9984

Simeon A Boyadjiev (SA)

Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA. sboyd@ucdavis.edu.

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Classifications MeSH

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