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

  • Azeez Butali
  • , 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 Caggana
  • Paul 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
  • University of Iowa
  • University of Dundee
  • University of Lagos
  • Addis Ababa University
  • Kwame Nkrumah University of Science and Technology
  • University of Washington
  • Wuhan University
  • University of California at Los Angeles
  • Children's Hospital Los Angeles
  • Operation Smile
  • Wadsworth Center for Laboratories and Research
  • National Institutes of Health
  • Nigerian Institute of Medical Research
  • Ladoke Akintola University of Science and Technology
  • Obafemi Awolowo University
  • Usmanu Danfodiyo University
  • State House Clinic
  • Virginia Commonwealth University
  • University of Ilorin
  • University of Kansas
  • University of Nigeria
  • University of Delaware
  • School of Dental Medicine
  • University of Pittsburgh

Producción científica › revisión exhaustiva

75 Citas (Scopus)

Resumen

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.

Idioma originalEnglish
Páginas (desde-hasta)1038-1051
Número de páginas14
PublicaciónHuman Molecular Genetics
Volumen28
N.º6
DOI
EstadoPublished - 15 mar 2019

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