| dc.contributor.author | MOLLOY, ANNE | en |
| dc.contributor.author | SCOTT, JOHN | en |
| dc.date.accessioned | 2015-12-09T11:33:43Z | |
| dc.date.available | 2015-12-09T11:33:43Z | |
| dc.date.issued | 2010 | en |
| dc.date.submitted | 2010 | en |
| dc.identifier.citation | Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Scott JM, Arcos-Burgos M, Scott AF, A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4., Nature Genetics, 42, 6, 2010, 525-529 | en |
| dc.identifier.other | Y | en |
| dc.description | PUBLISHED | en |
| dc.description.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 × 10−11; and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292–1.587, P = 5.01 × 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. | en |
| dc.description.sponsorship | We sincerely thank all of the families at each recruitment site for participating in this study, and we gratefully acknowledge the invaluable assistance of clinical, field and laboratory staff who contributed to making this work possible. We are particularly grateful to Kate Durda and Jamie L’Heureux of the University of Iowa for assistance with samples and phenotype data: Laure Henkle for technical assistance; Judith Resick, Carla Brandon, and Kathy Bardi of the University of Pittsburgh for assistance with recruitment; Wendy Carricato, Kathleen Deeley, and Joseph Ruff of the University of Pittsburgh for sample handling; Poorav Patel and Margaret Rose of Johns Hopkins for assistance with data analysis; Felicia Cheah of the National University of Singapore for sample processing and management; Marcie Feldkamp and John Carey, Utah Birth Defects Network, for assistance with recruitment and case-review; Dawnya Pearce, Utah State University for sample collection and processing. Funding to support data collection, genotyping and analysis came from several sources, some to individual investigators and some to the consortium itself. The consortium for GWAS genotyping and analysis was supported by the National Institute for Dental and Craniofacial Research through U01-DE-004425; “International Consortium to Identify Genes & Interactions Controlling Oral Clefts”, 2007–2009; TH Beaty, PI. Funding for individual investigators and the replication studies include: R01-DE-014581 (THB); R37-DE08559 (JCM, MLM), R01-DE09886 (MLM, LM, LLF), R01-DE012472 (MLM), R01-DE014677 (ACL, MLM), R01-DE016148 (MLM), P50-DE016215 (JCM, MLM), R21-DE016930 (MLM, EEC, AEC), R01-HD390661 and R01-DE016877 (RGM). JK02-AEO15291 (ACL), March of Dimes Basil O’Connor award #FY 98-0718 & Research Grant #6-FY01-61 (ACL); NIH R03-AR-055313 & NIH P50-DE-16215 (project #3) (MD), K99-DE-018441 (RM). Smile Train Foundation supported data collection in Chengdu (EWJ, BS). This research was supported in part by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (AJW). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Dental and Craniofacial Research, nor the National Institutes of Health. | en |
| dc.format.extent | 525-529 | en |
| dc.relation.ispartofseries | Nature Genetics | en |
| dc.relation.ispartofseries | 42 | en |
| dc.relation.ispartofseries | 6 | en |
| dc.rights | Y | en |
| dc.subject | cleft lip | en |
| dc.subject.lcsh | cleft lip | en |
| dc.title | A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. | en |
| dc.type | Journal Article | en |
| dc.type.supercollection | scholarly_publications | en |
| dc.type.supercollection | refereed_publications | en |
| dc.identifier.peoplefinderurl | http://people.tcd.ie/amolloy | en |
| dc.identifier.rssinternalid | 68112 | en |
| dc.identifier.doi | http://dx.doi.org/10.1038/ng.580 | en |
| dc.rights.ecaccessrights | openAccess | |
| dc.subject.TCDTheme | Genes & Society | en |
| dc.identifier.uri | http://hdl.handle.net/2262/75139 | |
