Literature DB >> 30452639

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

Azeez Butali1, Peter A Mossey2, Wasiu L Adeyemo3, Mekonen A Eshete4, Lord J J Gowans5, Tamara D Busch1, Deepti Jain6, Wenjie Yu7, Liu Huan8, Cecelia A Laurie6, Cathy C Laurie6, Sarah Nelson6, Mary Li1, Pedro A Sanchez-Lara9, William P Magee10, Kathleen S Magee11, Allyn Auslander10, Frederick Brindopke10, Denise M Kay12, Michele Caggana12, Paul A Romitti13, James L Mills14, Rosemary Audu15, Chika Onwuamah15, Ganiyu O Oseni16, Arwa Owais17, Olutayo James3, Peter B Olaitan16, Babatunde S Aregbesola18, Ramat O Braimah19, Fadekemi O Oginni18, Ayodeji O Oladele18, Saidu A Bello20, Jennifer Rhodes21, Rita Shiang21, Peter Donkor5, Solomon Obiri-Yeboah5, Fareed Kow Nanse Arthur5, Peter Twumasi5, Pius Agbenorku5, Gyikua Plange-Rhule5, Alexander Acheampong Oti5, Olugbenga M Ogunlewe3, Afisu A Oladega3, Adegbayi A Adekunle3, Akinwunmi O Erinoso3, Olatunbosun O Adamson3, Abosede A Elufowoju3, Oluwanifemi I Ayelomi3, Taiye Hailu4, Abiye Hailu4, Yohannes Demissie4, Miliard Derebew4, Steve Eliason7, Miguel Romero-Bustillous7, Cynthia Lo1, James Park1, Shaan Desai1, Muiawa Mohammed1, Firke Abate4, Lukman O Abdur-Rahman22, Deepti Anand23, Irfaan Saadi24, Abimibola V Oladugba25, Salil A Lachke23, Brad A Amendt7, Charles N Rotimi26, Mary L Marazita27, Robert A Cornell7, Jeffrey C Murray28, Adebowale A Adeyemo26.   

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. Published by Oxford University Press 2018.

Entities:  

Mesh:

Year:  2019        PMID: 30452639      PMCID: PMC6400042          DOI: 10.1093/hmg/ddy402

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  65 in total

1.  Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

Authors:  R L Johnson; A L Rothman; J Xie; L V Goodrich; J W Bare; J M Bonifas; A G Quinn; R M Myers; D R Cox; E H Epstein; M P Scott
Journal:  Science       Date:  1996-06-14       Impact factor: 47.728

2.  Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

Authors:  Yimin Sun; Yongqing Huang; Aihua Yin; Yongchu Pan; Yirui Wang; Cheng Wang; Yong Du; Meilin Wang; Feifei Lan; Zhibin Hu; Guoqing Wang; Min Jiang; Junqing Ma; Xiaozhuang Zhang; Hongxia Ma; Jian Ma; Weibing Zhang; Qun Huang; Zhongwei Zhou; Lan Ma; Yadi Li; Hongbing Jiang; Lan Xie; Yuyang Jiang; Bing Shi; Jing Cheng; Hongbing Shen; Lin Wang; Yinxue Yang
Journal:  Nat Commun       Date:  2015-03-16       Impact factor: 14.919

Review 3.  The application of molecular genetic approaches to the study of human evolution.

Authors:  L Luca Cavalli-Sforza; Marcus W Feldman
Journal:  Nat Genet       Date:  2003-03       Impact factor: 38.330

4.  Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

Authors:  M G Bialer; L Lawrence; R E Stevenson; G Silverberg; M K Williams; J F Arena; H A Lubs; C E Schwartz
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

5.  FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Authors:  Lina M Moreno; Maria Adela Mansilla; Steve A Bullard; Margaret E Cooper; Tamara D Busch; Junichiro Machida; Marla K Johnson; David Brauer; Katherine Krahn; Sandy Daack-Hirsch; Jamie L'heureux; Consuelo Valencia-Ramirez; Dora Rivera; Ana Maria López; Manuel A Moreno; Anne Hing; Edward J Lammer; Marilyn Jones; Kaare Christensen; Rolv T Lie; Astanand Jugessur; Allen J Wilcox; Peter Chines; Elizabeth Pugh; Kim Doheny; Mauricio Arcos-Burgos; Mary L Marazita; Jeffrey C Murray; Andrew C Lidral
Journal:  Hum Mol Genet       Date:  2009-09-24       Impact factor: 6.150

Review 6.  Cleft lip and palate.

Authors:  Peter A Mossey; Julian Little; Ron G Munger; Mike J Dixon; William C Shaw
Journal:  Lancet       Date:  2009-09-09       Impact factor: 79.321

7.  Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population.

Authors:  Hongquan Song; Xiaotong Wang; Jiaqun Yan; Na Mi; Xiaohui Jiao; Yanru Hao; Wei Zhang; Yuwei Gao
Journal:  Medicine (Baltimore)       Date:  2017-02       Impact factor: 1.889

8.  Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

Authors:  Yanqin Yu; Xianbo Zuo; Miao He; Jinping Gao; Yuchuan Fu; Chuanqi Qin; Liuyan Meng; Wenjun Wang; Yaling Song; Yong Cheng; Fusheng Zhou; Gang Chen; Xiaodong Zheng; Xinhuan Wang; Bo Liang; Zhengwei Zhu; Xiazhou Fu; Yujun Sheng; Jiebing Hao; Zhongyin Liu; Hansong Yan; Elisabeth Mangold; Ingo Ruczinski; Jianjun Liu; Mary L Marazita; Kerstin U Ludwig; Terri H Beaty; Xuejun Zhang; Liangdan Sun; Zhuan Bian
Journal:  Nat Commun       Date:  2017-02-24       Impact factor: 14.919

9.  Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.

Authors:  L J J Gowans; W L Adeyemo; M Eshete; P A Mossey; T Busch; B Aregbesola; P Donkor; F K N Arthur; S A Bello; A Martinez; M Li; E A Augustine-Akpan; W Deressa; P Twumasi; J Olutayo; M Deribew; P Agbenorku; A A Oti; R Braimah; G Plange-Rhule; M Gesses; S Obiri-Yeboah; G O Oseni; P B Olaitan; L Abdur-Rahman; F Abate; T Hailu; P Gravem; M O Ogunlewe; C J Buxó; M L Marazita; A A Adeyemo; J C Murray; A Butali
Journal:  J Dent Res       Date:  2016-07-01       Impact factor: 8.924

10.  A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

Authors:  Elizabeth J Leslie; Jenna C Carlson; John R Shaffer; Eleanor Feingold; George Wehby; Cecelia A Laurie; Deepti Jain; Cathy C Laurie; Kimberly F Doheny; Toby McHenry; Judith Resick; Carla Sanchez; Jennifer Jacobs; Beth Emanuele; Alexandre R Vieira; Katherine Neiswanger; Andrew C Lidral; Luz Consuelo Valencia-Ramirez; Ana Maria Lopez-Palacio; Dora Rivera Valencia; Mauricio Arcos-Burgos; Andrew E Czeizel; L Leigh Field; Carmencita D Padilla; Eva Maria C Cutiongco-de la Paz; Frederic Deleyiannis; Kaare Christensen; Ronald G Munger; Rolv T Lie; Allen Wilcox; Paul A Romitti; Eduardo E Castilla; Juan C Mereb; Fernando A Poletta; Iêda M Orioli; Flavia M Carvalho; Jacqueline T Hecht; Susan H Blanton; Carmen J Buxó; Azeez Butali; Peter A Mossey; Wasiu L Adeyemo; Olutayo James; Ramat O Braimah; Babatunde S Aregbesola; Mekonen A Eshete; Fikre Abate; Mine Koruyucu; Figen Seymen; Lian Ma; Javier Enríquez de Salamanca; Seth M Weinberg; Lina Moreno; Jeffrey C Murray; Mary L Marazita
Journal:  Hum Mol Genet       Date:  2016-03-30       Impact factor: 5.121

View more
  19 in total

1.  Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.

Authors:  Yan Yan Sweat; Mason Sweat; Maurisa Mansaray; Huojun Cao; Steven Eliason; Waisu L Adeyemo; Lord J J Gowans; Mekonen A Eshete; Deepti Anand; Camille Chalkley; Irfan Saadi; Salil A Lachke; Azeez Butali; Brad A Amendt
Journal:  Dev Biol       Date:  2019-11-23       Impact factor: 3.582

Review 2.  Genetics and signaling mechanisms of orofacial clefts.

Authors:  Kurt Reynolds; Shuwen Zhang; Bo Sun; Michael A Garland; Yu Ji; Chengji J Zhou
Journal:  Birth Defects Res       Date:  2020-07-15       Impact factor: 2.344

3.  Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

Authors:  Lulin Huang; Zhonglin Jia; Yi Shi; Qin Du; Jiayu Shi; Ziyan Wang; Yandong Mou; Qingwei Wang; Bihe Zhang; Qing Wang; Shi Ma; He Lin; Shijun Duan; Bin Yin; Yansong Lin; Yiru Wang; Dan Jiang; Fang Hao; Lin Zhang; Haixin Wang; Suyuan Jiang; Huijuan Xu; Chengwei Yang; Chenghao Li; Jingtao Li; Bing Shi; Zhenglin Yang
Journal:  PLoS Genet       Date:  2019-10-14       Impact factor: 5.917

4.  Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.

Authors:  W Awotoye; C Comnick; C Pendleton; E Zeng; A Alade; P A Mossey; L J J Gowans; M A Eshete; W L Adeyemo; T Naicker; C Adeleke; T Busch; M Li; A Petrin; J Olotu; M Hassan; J Pape; S E Miller; P Donkor; D Anand; S A Lachke; M L Marazita; A A Adeyemo; J C Murray; D Albokhari; N Sobreira; A Butali
Journal:  J Dent Res       Date:  2021-10-23       Impact factor: 6.116

5.  Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Authors:  Waheed Awotoye; Peter A Mossey; Jacqueline B Hetmanski; Lord J J Gowans; Mekonen A Eshete; Wasiu L Adeyemo; Azeez Alade; Erliang Zeng; Olawale Adamson; Thirona Naicker; Deepti Anand; Chinyere Adeleke; Tamara Busch; Mary Li; Aline Petrin; Babatunde S Aregbesola; Ramat O Braimah; Fadekemi O Oginni; Ayodeji O Oladele; Abimbola Oladayo; Sami Kayali; Joy Olotu; Mohaned Hassan; John Pape; Peter Donkor; Fareed K N Arthur; Solomon Obiri-Yeboah; Daniel K Sabbah; Pius Agbenorku; Gyikua Plange-Rhule; Alexander Acheampong Oti; Rose A Gogal; Terri H Beaty; Margaret Taub; Mary L Marazita; Michael J Schnieders; Salil A Lachke; Adebowale A Adeyemo; Jeffrey C Murray; Azeez Butali
Journal:  Sci Rep       Date:  2022-07-11       Impact factor: 4.996

6.  Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate.

Authors:  M He; X Zuo; H Liu; W Wang; Y Zhang; Y Fu; Q Zhen; Y Yu; Y Pan; C Qin; B Li; R Yang; J Wu; Z Huang; H Ge; H Wu; Q Xu; Y Zuo; W Chen; Y Qin; Z Liu; S Chen; H Zhang; F Zhou; H Yan; Y Yu; L Yong; G Chen; B Liang; R A Cornell; L Zong; L Wang; D Zou; L Sun; Z Bian
Journal:  J Dent Res       Date:  2020-08-06       Impact factor: 6.116

7.  Replication of GWAS significant loci in a sub-Saharan African Cohort with early childhood caries: a pilot study.

Authors:  Olubukola O Olatosi; Mary Li; Azeez A Alade; Afolabi Oyapero; Tamara Busch; John Pape; Joy Olotu; Waheed Awotoye; Mohaned Hassan; Chinyere Adeleke; Wasiu L Adeyemo; Elizabeth O Sote; John R Shaffer; Mary Marazita; Azeez Butali
Journal:  BMC Oral Health       Date:  2021-05-20       Impact factor: 2.757

8.  Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.

Authors:  Lord J J Gowans; Noura Al Dhaheri; Mary Li; Tamara Busch; Solomon Obiri-Yeboah; Alexander A Oti; Daniel K Sabbah; Fareed K N Arthur; Waheed O Awotoye; Azeez A Alade; Peter Twumasi; Pius Agbenorku; Gyikua Plange-Rhule; Thirona Naicker; Peter Donkor; Jeffrey C Murray; Nara L M Sobreira; Azeez Butali
Journal:  Mol Genet Genomic Med       Date:  2021-03-14       Impact factor: 2.183

9.  The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.

Authors:  Brian J Paul; Kristina J Palmer; Lindsey Rhea; Melissa Carlson; Jocelyn C Sharp; C Herbert Pratt; Stephen A Murray; Martine Dunnwald
Journal:  Dev Dyn       Date:  2021-03-27       Impact factor: 2.842

10.  Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Authors:  Renato Assis Machado; Hercílio Martelli-Junior; Silvia Regina de Almeida Reis; Erika Calvano Küchler; Rafaela Scariot; Lucimara Teixeira das Neves; Ricardo D Coletta
Journal:  Front Cell Dev Biol       Date:  2021-07-08
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.