A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Terri H. Beaty,Jeffrey C. Murray,Mary L. Marazita,Ronald G. Munger,Ingo Ruczinski,Jacqueline B. Hetmanski,Kung Yee Liang,Tao Wu,Tao Wu,Tanda Murray,M. Daniele Fallin,Richard A. Redett,Gerald V. Raymond,Holger Schwender,Sheng Chih Jin,Margaret E. Cooper,Martine Dunnwald,Maria A. Mansilla,Elizabeth J. Leslie,Stephen Bullard,Andrew C. Lidral,Lina M. Moreno,Renato Menezes,Alexandre R. Vieira,Aline Petrin,Allen J. Wilcox,Rolv T. Lie,Ethylin Wang Jabs,Ethylin Wang Jabs,Yah Huei Wu-Chou,Philip Kuo Ting Chen,Hong Wang,Xiaoqian Ye,Xiaoqian Ye,Shangzhi Huang,Vincent Yeow,Samuel S. Chong,Sun Ha Jee,Bing Shi,Kaare Christensen,Mads Melbye,Kimberly F. Doheny,Elizabeth W. Pugh,Hua Ling,Eduardo E. Castilla,Andrew E. Czeizel,Lian Ma,L. Leigh Field,Lawrence C. Brody,Faith Pangilinan,James L. Mills,Anne M. Molloy,Peadar N. Kirke,James M. Scott,Mauricio Arcos-Burgos,Alan F. Scott +55 more
TLDR
In this paper, case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate, and two previously identified regions (at chromosome 8q24 and IRF6) attained genomewide significance.Abstract:
Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes remained similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4. Expression studies support a role for MAFB in palatal development.read more
Citations
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Cleft lip and palate: understanding genetic and environmental influences.
TL;DR: Using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP.
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Genome-wide Association Studies Prospects and Challenges for Oral Health
TL;DR: The issues surrounding the genome-wide association study approach are discussed with emphasis on the prospects and challenges relevant to the oral health research community.
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Improving human forensics through advances in genetics, genomics and molecular biology
Manfred Kayser,Peter de Knijff +1 more
TL;DR: Advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future, including new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts.
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Global burden of oral diseases: emerging concepts, management and interplay with systemic health.
Lijian Jin,Ira B. Lamster,John S. Greenspan,Nigel Pitts,Crispian Scully,Saman Warnakulasuriya +5 more
TL;DR: This study presents the global burden of major oral diseases with an exegetical commentary on their current profiles, the critical issues in oral healthcare and future perspectives, and it is of great importance to integrate oral health into global health agenda via the common risk factor approach.
Journal ArticleDOI
Genetics of cleft lip and cleft palate.
TL;DR: Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes, and identification of these genes and loci has been the result of decades of research using multiple genetic approaches.
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