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

doi:10.1093/hmg/ddy402

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

Dentistry

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Abstract

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 language	English
Pages (from-to)	1038-1051
Number of pages	14
Journal	Human Molecular Genetics
Volume	28
Issue number	6
Early online date	19 Nov 2018
DOIs	https://doi.org/10.1093/hmg/ddy402
Publication status	Published - 15 Mar 2019

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/ddy402

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This is a pre-copyedited, author-produced version of an article accepted for publication in Human Molecular Genetics following peer review. The version of record Butali, A., et al. "Genomic analyses in african populations identify novel risk loci for cleft palate", Human Molecular Genetics (2018) is available online at: https://doi.org/10.1093/hmg/ddy402.
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Butali, A., Mossey, P. A., Adeyemo, W. L., Eshete, M. A., Gowans, L. J. J., Busch, T. D., Jain, D., Yu, W., Huan, L., Laurie, C. A., Laurie, C. C., Nelson, S., Li, M., Sanchez-Lara, P. A., Magee, W. P., Magee, K. S., Auslander, A., Brindopke, F., Kay, D. M., ... Adeyemo, A. A. (2019). Genomic analyses in african populations identify novel risk loci for cleft palate. Human Molecular Genetics, 28(6), 1038-1051. https://doi.org/10.1093/hmg/ddy402

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title = "Genomic analyses in african populations identify novel risk loci for cleft palate",

abstract = "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.",

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

year = "2019",

month = mar,

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doi = "10.1093/hmg/ddy402",

language = "English",

volume = "28",

pages = "1038--1051",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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Butali, A, Mossey, PA, Adeyemo, WL, Eshete, MA, Gowans, LJJ, Busch, TD, Jain, D, Yu, W, Huan, L, Laurie, CA, Laurie, CC, Nelson, S, Li, M, Sanchez-Lara, PA, Magee, WP, Magee, KS, Auslander, A, Brindopke, F, Kay, DM, Caggana, M, Romitti, PA, Mills, JL, Audu, R, Onwuamah, C, Oseni, GO, Owais, A, James, O, Olaitan, PB, Aregbesola, BS, Braimah, RO, Oginni, FO, Oladele, AO, Bello, SA, Rhodes, J, Shiang, R, Donkor, P, Obiri-Yeboah, S, Arthur, FKN, Twumasi, P, Agbenorku, P, Plange-Rhule, G, Oti, AA, Ogunlewe, OM, Oladega, AA, Adekunle, AA, Erinoso, AO, Adamson, OO, Elufowoju, AA, Ayelomi, OI, Hailu, T, Hailu, A, Demissie, Y, Derebew, M, Eliason, S, Romero-Bustillous, M, Lo, C, Park, J, Desai, S, Mohammed, M, Abate, F, Abdur-Rahman, LO, Anand, D, Saadi, I, Oladugba, AV, Lachke, SA, Amendt, BA, Rotimi, CN, Marazita, ML, Cornell, RA, Murray, JC & Adeyemo, AA 2019, 'Genomic analyses in african populations identify novel risk loci for cleft palate', Human Molecular Genetics, vol. 28, no. 6, pp. 1038-1051. https://doi.org/10.1093/hmg/ddy402

TY - JOUR

T1 - Genomic analyses in african populations identify novel risk loci for cleft palate

AU - Butali, Azeez

AU - Mossey, Peter A.

AU - Adeyemo, Wasiu L.

AU - Eshete, Mekonen A.

AU - Gowans, Lord J. J.

AU - Busch, Tamara D.

AU - Jain, Deepti

AU - Yu, Wenjie

AU - Huan, Liu

AU - Laurie, Cecelia A.

AU - Laurie, Cathy C.

AU - Nelson, Sarah

AU - Li, Mary

AU - Sanchez-Lara, Pedro A.

AU - Magee, William P.

AU - Magee, Kathleen S.

AU - Auslander, Allyn

AU - Brindopke, Frederick

AU - Kay, Denise M.

AU - Caggana, Michele

AU - Romitti, Paul A.

AU - Mills, James L.

AU - Audu, Rosemary

AU - Onwuamah, Chika

AU - Oseni, Ganiyu O.

AU - Owais, Arwa

AU - James, Olutayo

AU - Olaitan, Peter B.

AU - Aregbesola, Babatunde S

AU - Braimah, Ramat O.

AU - Oginni, Fadekemi O.

AU - Oladele, Ayodeji O.

AU - Bello, Saidu A.

AU - Rhodes, Jennifer

AU - Shiang, Rita

AU - Donkor, Peter

AU - Obiri-Yeboah, Solomon

AU - Arthur, Fareed Kow Nanse

AU - Twumasi, Peter

AU - Agbenorku, Pius

AU - Plange-Rhule, Gyikua

AU - Oti, Alexander Acheampong

AU - Ogunlewe, Olugbenga M.

AU - Oladega, Afisu A.

AU - Adekunle, Adegbayi A.

AU - Erinoso, Akinwunmi O.

AU - Adamson, Olatunbosun O.

AU - Elufowoju, Abosede A.

AU - Ayelomi, Oluwanifemi I.

AU - Hailu, Taiye

AU - Hailu, Abiye

AU - Demissie, Yohannes

AU - Derebew, Miliard

AU - Eliason, Steve

AU - Romero-Bustillous, Miguel

AU - Lo, Cynthia

AU - Park, James

AU - Desai, Shaan

AU - Mohammed, Muiawa

AU - Abate, Firke

AU - Abdur-Rahman, Lukman O.

AU - Anand, Deepti

AU - Saadi, Irfaan

AU - Oladugba, Abimibola V.

AU - Lachke, Salil A.

AU - Amendt, Brad A.

AU - Rotimi, Charles N.

AU - Marazita, Mary L.

AU - Cornell, Robert A.

AU - Murray, Jeffrey C.

AU - Adeyemo, Adebowale A.

PY - 2019/3/15

Y1 - 2019/3/15

N2 - 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.

AB - 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.

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U2 - 10.1093/hmg/ddy402

DO - 10.1093/hmg/ddy402

M3 - Article

C2 - 30452639

SN - 0964-6906

VL - 28

SP - 1038

EP - 1051

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 6

ER -

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

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

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