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Publication : Genomic analyses in African populations identify novel risk loci for cleft palate.

First Author  Butali A Year  2019
Journal  Hum Mol Genet Volume  28
Issue  6 Pages  1038-1051
PubMed ID  30452639 Mgi Jnum  J:277278
Mgi Id  MGI:6315024 Doi  10.1093/hmg/ddy402
Citation  Butali A, et al. (2019) Genomic analyses in African populations identify novel risk loci for cleft palate. Hum Mol Genet 28(6):1038-1051
abstractText  Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.
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