Article
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Nature genetics - 1 Dec 2012
Justice Cristina M, Yagnik Garima, Kim Yoonhee, Peter Inga, Jabs Ethylin Wang, Erazo Monica, Ye Xiaoqian, Ainehsazan Edmond, Shi Lisong, Cunningham Michael L, Kimonis Virginia, Roscioli Tony, Wall Steven A, Wilkie Andrew O M, Stoler Joan, Richtsmeier Joan T, Heuzé Yann, Sanchez-Lara Pedro A, Buckley Michael F, Druschel Charlotte M, Mills James L, Caggana Michele, Romitti Paul A, Kay Denise M, Senders Craig, Taub Peter J, Klein Ophir D, Boggan James, Zwienenberg-Lee Marike, Naydenov Cyrill, Kim Jinoh, Wilson Alexander F, Boyadjiev Simeon A
Abstract excerpt
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 ×...
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