Genomic analyses in african populations identify novel risk loci for cleft palate

Azeez Butali (Lead / Corresponding author), Peter A. Mossey, Wasiu L. Adeyemo, Mekonen A. Eshete, Lord J. J. Gowans, Tamara D. Busch, Deepti Jain, Wenjie Yu, Liu Huan, Cecelia A. Laurie, Cathy C. Laurie, Sarah Nelson, Mary Li, Pedro A. Sanchez-Lara, William P. Magee, Kathleen S. Magee, Allyn Auslander, Frederick Brindopke, Denise M. Kay, Michele CagganaPaul A. Romitti, James L. Mills, Rosemary Audu, Chika Onwuamah, Ganiyu O. Oseni, Arwa Owais, Olutayo James, Peter B. Olaitan, Babatunde S Aregbesola, Ramat O. Braimah, Fadekemi O. Oginni, Ayodeji O. Oladele, Saidu A. Bello, Jennifer Rhodes, Rita Shiang, Peter Donkor, Solomon Obiri-Yeboah, Fareed Kow Nanse Arthur, Peter Twumasi, Pius Agbenorku, Gyikua Plange-Rhule, Alexander Acheampong Oti, Olugbenga M. Ogunlewe, Afisu A. Oladega, Adegbayi A. Adekunle, Akinwunmi O. Erinoso, Olatunbosun O. Adamson, Abosede A. Elufowoju, Oluwanifemi I. Ayelomi, Taiye Hailu, Abiye Hailu, Yohannes Demissie, Miliard Derebew, Steve Eliason, Miguel Romero-Bustillous, Cynthia Lo, James Park, Shaan Desai, Muiawa Mohammed, Firke Abate, Lukman O. Abdur-Rahman, Deepti Anand, Irfaan Saadi, Abimibola V. Oladugba, Salil A. Lachke, Brad A. Amendt, Charles N. Rotimi, Mary L. Marazita, Robert A. Cornell, Jeffrey C. Murray, Adebowale A. Adeyemo

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Orofacial clefts are common developmental disorders that pose significant clinical, economic and psychological problems. We conducted genome-wide association analyses for isolated cleft palate (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 shows expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously-reported 8q24 locus was the most significant for CL/P in our study and we replicated several previously reported loci including PAX7 and VAX1.

Original languageEnglish
Pages (from-to)1038-1051
Number of pages14
JournalHuman Molecular Genetics
Issue number6
Early online date19 Nov 2018
Publication statusPublished - 15 Mar 2019

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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