biostudies-literature00460Butali AIntramural Research Program of the National Institutes of HealthGhana Cleft FoundationIntramural NIH HHSNCBDD CDC HHSEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNIDCR NIH HHSNICHD NIH HHSNIEHS NIH HHSNational Institute of Dental and Craniofacial ResearchNational Institutes of HealthIntramural Research Program of the National Institutes of Health in the CRGGHRobert Wood Johnson Foundation1038-1051https://www.ebi.ac.uk/biostudies/studies/S-EPMC6400042biostudies-literatureUnknown28(6)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.Human molecular geneticsGenomic analyses in African populations identify novel risk loci for cleft palate.PMC6400042R01 DE026172P30 ES005605R01 DE008559K99 DE022378R00 DE022378G001K99/R00 (DE022378)HHSN27500005HHSN275201100001GZIA HG200362HHSN275201100001IR01 DE023575R37 DE-016148R01 DE016148U01 DD001223R56 DE023575R37 DE008559HHSN275201100001CR37 DE-08559U01 DD00103572429Owais ARomitti PAOladugba AVMurray JCAdeyemo AAAdekunle AARomero-Bustillous MDonkor PBusch TDBraimah ROMohammed MGowans LJJKay DMSaadi IJames OBello SAOladele AOAuslander AHailu AAyelomi OIRotimi CNBrindopke FLo CPark JTwumasi PAbate FHailu TOseni GOJain DLi MAregbesola BSOlaitan PBEshete MANelson SAgbenorku PShiang ROnwuamah COladega AAAnand DOgunlewe OMButali AHuan LRhodes JObiri-Yeboah SArthur FKNCornell RAOginni FOSanchez-Lara PACaggana MElufowoju AADesai SMills JLMossey PAAdeyemo WLDerebew MYu WAbdur-Rahman LOAdamson OOAudu ROti AADemissie YMagee KSLaurie CCLaurie CAErinoso AOEliason SLachke SAMagee WPAmendt BAPlange-Rhule GMarazita ML46falseGenomic analyses in African populations identify novel risk loci for cleft palate.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 VAX1.2019-01-01T00:00:00Z2019 Mar2024-12-03T14:58:39.168Z2020-05-22T12:20:55ZS-EPMC64000423045263910.1093/hmg/ddy402