Article
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Human genetics - 1 Aug 2020
Justice Cristina M, Cuellar Araceli, Bala Krithi, Sabourin Jeremy A, Cunningham Michael L, Crawford Karen, Phipps Julie M, Zhou Yan, Cilliers Deirdre, Byren Jo C, Johnson David, Wall Steven A, Morton Jenny E V, Noons Peter, Sweeney Elizabeth, Weber Astrid, Rees Katie E M, Wilson Louise C, Simeonov Emil, Kaneva Radka, Yaneva Nadezhda, Georgiev Kiril, Bussarsky Assen, Senders Craig, Zwienenberg Marike, Boggan James, Roscioli Tony, Tamburrini Gianpiero, Barba Marta, Conway Kristin, Sheffield Val C, Brody Lawrence, Mills James L, Kay Denise, Sicko Robert J, Langlois Peter H, Tittle Rachel K, Botto Lorenzo D, Jenkins Mary M, LaSalle Janine M, Lattanzi Wanda, Wilkie Andrew O M, Wilson Alexander F, Romitti Paul A, Boyadjiev Simeon A
Abstract excerpt
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P ≤ 5 × 10-8): rs781716 (P = 4.71 × 10-9; odds ratio [OR] = 2.44)...
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