A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M Justice; Garima Yagnik; Yoonhee Kim; Inga Peter; Ethylin Wang Jabs; Monica Erazo; Xiaoqian Ye; Edmond Ainehsazan; Lisong Shi; Michael L Cunningham; Virginia Kimonis; Tony Roscioli; Steven A Wall; Andrew O M Wilkie; Joan Stoler; Joan T Richtsmeier; Yann Heuzé; Pedro A Sanchez-Lara; Michael F Buckley; Charlotte M Druschel; James L Mills; Michele Caggana; Paul A Romitti; Denise M Kay; Craig Senders; Peter J Taub; Ophir D Klein; James Boggan; Marike Zwienenberg-Lee; Cyrill Naydenov; Jinoh Kim; Simeon A Boyadjiev; Alexander F Wilson

doi:10.1038/ng.2463

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A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

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A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M Justice, Garima Yagnik, Yoonhee Kim, Inga Peter, Ethylin Wang Jabs, Monica Erazo, Xiaoqian Ye, Edmond Ainehsazan, Lisong Shi, Michael L Cunningham, …

Nature genetics, Vol.44(12), pp.1360-1364

12/2012

DOI: 10.1038/ng.2463

PMCID: PMC3736322

PMID: 23160099

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Abstract

Sagittal craniosynostosis is the most common form of craniosynostosis, affecting approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome-wide association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130 non-Hispanic case-parent trios of European ancestry (NHW). We found robust associations in a 120-kb region downstream of BMP2 flanked by rs1884302 (P = 1.13 × 10(-14), odds ratio (OR) = 4.58) and rs6140226 (P = 3.40 × 10(-11), OR = 0.24) and within a 167-kb region of BBS9 between rs10262453 (P = 1.61 × 10(-10), OR = 0.19) and rs17724206 (P = 1.50 × 10(-8), OR = 0.22). We replicated the associations to both loci (rs1884302, P = 4.39 × 10(-31) and rs10262453, P = 3.50 × 10(-14)) in an independent NHW population of 172 unrelated probands with sNSC and 548 controls. Both BMP2 and BBS9 are genes with roles in skeletal development that warrant functional studies to further understand the etiology of sNSC.

Cytoskeletal Proteins

Bone Morphogenetic Protein 2 - genetics

European Continental Ancestry Group - genetics

Genetic Predisposition to Disease

Genome-Wide Association Study

Oligonucleotide Array Sequence Analysis

Craniosynostoses - genetics

Humans

Male

Genetic Loci

Sex Factors

Polymorphism, Single Nucleotide

Neoplasm Proteins - genetics

Infant, Newborn

Cohort Studies

Details

Title: Subtitle: A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Creators: Cristina M Justice - Genometrics Section, Inherited Disease Research Branch, Division of Intramural Research, National Human Genome Research Institute, US National Institutes of Health (NIH), Baltimore, MD, USA
Garima Yagnik
Yoonhee Kim
Inga Peter
Ethylin Wang Jabs
Monica Erazo
Xiaoqian Ye
Edmond Ainehsazan
Lisong Shi
Michael L Cunningham
Virginia Kimonis
Tony Roscioli
Steven A Wall
Andrew O M Wilkie
Joan Stoler
Joan T Richtsmeier
Yann Heuzé
Pedro A Sanchez-Lara
Michael F Buckley
Charlotte M Druschel
James L Mills
Michele Caggana
Paul A Romitti
Denise M Kay
Craig Senders
Peter J Taub
Ophir D Klein
James Boggan
Marike Zwienenberg-Lee
Cyrill Naydenov
Jinoh Kim
Simeon A Boyadjiev
Alexander F Wilson
Resource Type: Journal article
Publication Details: Nature genetics, Vol.44(12), pp.1360-1364
DOI: 10.1038/ng.2463
PMID: 23160099
PMCID: PMC3736322
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: United States
Grant note: UL1TR000067 / NCATS NIH HHS R03 DE016342 / NIDCR NIH HHS 3R37DE012711-13S1 / NIDCR NIH HHS K12-HD05954 / NICHD NIH HHS R21 DE022419 / NIDCR NIH HHS HHSN268200782096C / NHGRI NIH HHS R21DE022419 / NIDCR NIH HHS K23 DE000462 / NIDCR NIH HHS Intramural NIH HHS HHSN268200782096C / NHLBI NIH HHS 5U01DD000492 / NCBDD CDC HHS M01-RR00052 / NCRR NIH HHS N01-DK-7-3431 / NIDDK NIH HHS 093329 / Wellcome Trust 3R01 DE018500-02S1 / NIDCR NIH HHS U01 DD000492 / NCBDD CDC HHS R01 DE018227 / NIDCR NIH HHS R01 DD000350 / NCBDD CDC HHS 5 R01 DD000350 / NCBDD CDC HHS R01 DE022988 / NIDCR NIH HHS M01 RR000052 / NCRR NIH HHS R01 DE016886 / NIDCR NIH HHS HHSN267200703431C / PHS HHS K23 DE00462 / NIDCR NIH HHS R01 DE018500 / NIDCR NIH HHS R37 DE012711 / NIDCR NIH HHS UL1 TR000067 / NCATS NIH HHS
Language: English
Date published: 12/2012
Academic Unit: Epidemiology; Biostatistics
Record Identifier: 9983996191702771

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