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


ABSTRACT: 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.

SUBMITTER: Butali A 

PROVIDER: S-EPMC6400042 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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

Butali Azeez A   Mossey Peter A PA   Adeyemo Wasiu L WL   Eshete Mekonen A MA   Gowans Lord J J LJJ   Busch Tamara D TD   Jain Deepti D   Yu Wenjie W   Huan Liu L   Laurie Cecelia A CA   Laurie Cathy C CC   Nelson Sarah S   Li Mary M   Sanchez-Lara Pedro A PA   Magee William P WP   Magee Kathleen S KS   Auslander Allyn A   Brindopke Frederick F   Kay Denise M DM   Caggana Michele M   Romitti Paul A PA   Mills James L JL   Audu Rosemary R   Onwuamah Chika C   Oseni Ganiyu O GO   Owais Arwa A   James Olutayo O   Olaitan Peter B PB   Aregbesola Babatunde S BS   Braimah Ramat O RO   Oginni Fadekemi O FO   Oladele Ayodeji O AO   Bello Saidu A SA   Rhodes Jennifer J   Shiang Rita R   Donkor Peter P   Obiri-Yeboah Solomon S   Arthur Fareed Kow Nanse FKN   Twumasi Peter P   Agbenorku Pius P   Plange-Rhule Gyikua G   Oti Alexander Acheampong AA   Ogunlewe Olugbenga M OM   Oladega Afisu A AA   Adekunle Adegbayi A AA   Erinoso Akinwunmi O AO   Adamson Olatunbosun O OO   Elufowoju Abosede A AA   Ayelomi Oluwanifemi I OI   Hailu Taiye T   Hailu Abiye A   Demissie Yohannes Y   Derebew Miliard M   Eliason Steve S   Romero-Bustillous Miguel M   Lo Cynthia C   Park James J   Desai Shaan S   Mohammed Muiawa M   Abate Firke F   Abdur-Rahman Lukman O LO   Anand Deepti D   Saadi Irfaan I   Oladugba Abimibola V AV   Lachke Salil A SA   Amendt Brad A BA   Rotimi Charles N CN   Marazita Mary L ML   Cornell Robert A RA   Murray Jeffrey C JC   Adeyemo Adebowale A AA  

Human molecular genetics 20190301 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 show  ...[more]

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