TY - JOUR
T1 - A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
AU - Justice, Cristina M.
AU - Yagnik, Garima
AU - Kim, Yoonhee
AU - Peter, Inga
AU - Jabs, Ethylin Wang
AU - Erazo, Monica
AU - Ye, Xiaoqian
AU - Ainehsazan, Edmond
AU - Shi, Lisong
AU - Cunningham, Michael L.
AU - Kimonis, Virginia
AU - Roscioli, Tony
AU - Wall, Steven A.
AU - Wilkie, Andrew O M
AU - Stoler, Joan
AU - Richtsmeier, Joan T.
AU - Heuzé, Yann
AU - Sanchez-Lara, Pedro A.
AU - Buckley, Michael F.
AU - Druschel, Charlotte M.
AU - Mills, James L.
AU - Caggana, Michele
AU - Romitti, Paul A.
AU - Kay, Denise M.
AU - Senders, Craig
AU - Taub, Peter J.
AU - Klein, Ophir D.
AU - Boggan, James
AU - Zwienenberg-Lee, Marike
AU - Naydenov, Cyrill
AU - Kim, Jinoh
AU - Wilson, Alexander F.
AU - Boyadjiev, Simeon A.
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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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U2 - 10.1038/ng.2463
DO - 10.1038/ng.2463
M3 - Article
C2 - 23160099
AN - SCOPUS:84870506995
SN - 1061-4036
VL - 44
SP - 1360
EP - 1364
JO - Nature Genetics
JF - Nature Genetics
IS - 12
ER -