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Title: A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Author(s): 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.; Stoler, J.; Richtsmeier, J.T.; Heuze, 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.
Publication year: 2012
Source: Nature Genetics, vol. 44, iss. 12, (2012), pp. 1360-1364
ISSN: 1061-4036
DOI: https://doi.org/10.1038/ng.2463
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/110663   http://hdl.handle.net/2066/110663

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Subject: IGMD 3: Genomic disorders and inherited multi-system disorders
Organization: Human Genetics
Journal title:
Nature Genetics
Volume: vol. 44
Issue: iss. 12
Page start: p. 1360
Page end: p. 1364
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 x 10(-14), odds ratio (OR) = 4.58) and rs6140226 (P = 3.40 x 10(-11), OR = 0.24) and within a 167-kb region of BBS9 between rs10262453 (P = 1.61 x 10(-10), OR = 0.19) and rs17724206 (P = 1.50 x 10(-8), OR = 0.22). We replicated the associations to both loci (rs1884302, P = 4.39 x 10(-31) and rs10262453, P = 3.50 x 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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