A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Open accessAbstract
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.
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The penetrance of SMAD6 variants appears to be modified by common regulatory variation near BMP2.
“Strong evidence supports a role for the BMP/SMAD pathway, particularly through SMAD6, whose variants represent one of the most consistent findings in midline NCS [62]; importantly, their penetrance appears to be modified by common regulatory variation near BMP2, supporting a two-locus model rather than a simple monogenic one [76].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [76]
The paper reports common variants associated with sagittal craniosynostosis near BMP2 and predicts a regulatory element in that region (association findings and discussion; page unavailable). It does not report SMAD6 variants or show that BMP2-region variation modifies their penetrance. Its discussion treats gene–gene interactions as a possibility, not an established two-locus model. (LLM, conf=0.86)
Experimental — accuracy not yet measuredA two-locus model rather than a simple monogenic model is supported for SMAD6/BMP2 in sCS.
“Strong evidence supports a role for the BMP/SMAD pathway, particularly through SMAD6, whose variants represent one of the most consistent findings in midline NCS [62]; importantly, their penetrance appears to be modified by common regulatory variation near BMP2, supporting a two-locus model rather than a simple monogenic one [76].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [76]
The paper reports an association between variation near BMP2 and sagittal craniosynostosis and says the lack of Mendelian segregation suggests complex inheritance (Abstract; page unavailable). It does not establish that BMP2 variation modifies the penetrance of SMAD6 variants or support the specific SMAD6/BMP2 two-locus model; its tested gene–gene interactions were not significant after correction (Abstract; page unavailable). (LLM, conf=0.88)
Experimental — accuracy not yet measuredSusceptibility loci near BMP2 and within BBS9, as well as functional evidence implicating ciliogenesis and primary cilium biology, are relevant to sagittal suture homeostasis.
“This is further reinforced by the identification of susceptibility loci near BMP2 and within BBS9, as well as functional evidence implicating ciliogenesis and primary cilium biology in sagittal suture homeostasis [44, 76].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [76]
The Abstract (page unavailable) reports replicated susceptibility loci near BMP2 and within BBS9. It also links BBS9 to ciliary transport and discusses primary-cilium signaling, but says that BBS9’s effect on suture fusion remains unknown. It does not provide functional evidence that ciliogenesis or primary cilia maintain sagittal suture homeostasis. (LLM, conf=0.88)
Experimental — accuracy not yet measured
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“…the BMP/SMAD pathway, particularly through SMAD6 , whose variants represent one of the most consistent findings in midline NCS [62]; importantly, their penetrance appears to be modified by common regulatory variation near BMP2 , supporting a two-locus model rather than a simple monogenic one [76].”
- Authors
- Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., Kimonis, V., Roscioli, T., Wall, S. A., Wilkie, A. O. M., Stoler, J., Richtsmeier, J. T., Heuzé, Y., Sanchez-Lara, P. A., Buckley, M. F., Druschel, C. M., Mills, J. L., Caggana, M., Romitti, P. A., Kay, D. M., Senders, C., Taub, P. J., Klein, O. D., Boggan, J., Zwienenberg-Lee, M., Naydenov, C., Kim, J., Wilson, A. F., & Boyadjiev, S. A.
- Affiliations
- National Institutes of Health (US)
- University of California, Davis (US)
- Icahn School of Medicine at Mount Sinai (US)
- University of Washington (US)
- University of California, Irvine (US)
- UNSW Sydney (AU)
- National Health Service (GB)
- Boston Children's Hospital (US)
- Pennsylvania State University (US)
- University of Southern California (US)
- New York State Department of Health (US)
- University of Iowa (US)
- University of California Davis Medical Center (US)
- Mount Sinai Hospital (US)
- University of California, San Francisco (US)
- Medical University of Sofia (BG)
- Corresponding author
- Boyadjiev, Simeon A
- ORCID
- Justice, Cristina M
- Yagnik, Garima
- Kim, Yoonhee
- Peter, Inga
- Jabs, Ethylin Wang
- Ye, Xiaoqian
- Shi, Lisong
- Cunningham, Michael L
- Kimonis, Virginia
- Roscioli, Tony
- Wilkie, Andrew O M
- Stoler, Joan
- Richtsmeier, Joan T
- Heuzé, Yann
- Sanchez-Lara, Pedro A
- Buckley, Michael F
- Mills, James L
- Romitti, Paul A
- Kay, Denise M
- Taub, Peter J
- Klein, Ophir D
- Boggan, James
- Kim, Jinoh
- Wilson, Alexander F
- Venue
- Nature Genetics
- Published
- 2012-11-18
- Volume
- 44
- Issue
- 12
- Pages
- 1360-1364
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3736322
- OpenAlex
- W2106950760
- Cited by
- 140
- References
- 57
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 7 · 2023: 8 · 2022: 14 · 2021: 11 · 2020: 8 · 2019: 8 · 2018: 12 · 2017: 16 · 2016: 10 · 2015: 12 · 2014: 13 · 2013: 10
- FWCI
- 6.72
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- HAL (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Johns Hopkins University (HHSN268200782096C)
- Wellcome Trust (093329)
- Children's Miracle Network Hospitals
- National Institutes of Health (HHSN268200782096C, R01 DD000350, UL1TR000067, RR-00052)
- Centers for Disease Control and Prevention (U01DD000492, HHSN268200782096C, R01DD000350, 5R01 DD000350, R01 DE016886, 5U01DD000492)
- National Human Genome Research Institute (HHSN268200782096C)
- National Institute of Diabetes and Digestive and Kidney Diseases (N01-DK-73431)
- National Institute of Child Health and Human Development
- National Institute of Dental and Craniofacial Research (R01DE018500, R01DE018227, K23 DE 00462, DE00462, R03DE016342, R21DE022419, DE016886, R37DE012711, HHSN268200782096C, K23DE000462, R01DE016886, DE018227, R01DE022988)
- National Center for Research Resources (M01 RR-00052, RR 000 52, M01RR000052)
- National Center for Advancing Translational Sciences (RR00052)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12-HD05954)
- NHLBI Division of Intramural Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- craniosynostosis, BMP-2, BBS9, genetic susceptibility loci, case-parent trios, skeletal development, genetic etiology
- MeSH terms
- Craniosynostoses, Cytoskeletal Proteins, Humans, Infant, Newborn, Male, Neoplasm Proteins, Sex Factors, Cohort Studies, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study, Bone Morphogenetic Protein 2, Genetic Loci
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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