Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations

Laryngoscope

Volumn 122, Issue 9, 2012, Pages 2082-2087

  Lennon, Christen J ^a   Birkeland, Andrew C ^a   Nuñez, José Arturo Pacheco ^b   Su, Gloria H ^c   Lanzano, Patricia ^c   Guzman, Edwin ^c   Celis, Katrina ^c   Eisig, Sidney B ^d   Hoffman, David ^e   Rendon, Maria Teresa Guerra ^f   Ostos, Henry ^f   Chung, Wendy K ^c   Haddad Jr , Joseph ^c  

^a Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

^b University of Honduras   (Honduras)

^c New York Presbyterian Morgan Stanley Children's Hospital   (United States)

^d Howard Hughes Medical Institute   (United States)

^e STATEN ISLAND UNIVERSITY HOSPITAL   (United States)

^f UNIVERSIDAD SURCOLOMBIANA   (Colombia)

Author keywords

ABCA4; candidate gene; Cleft lip; cleft palate; Colombia; FOXE1; Honduras; MAFB; NOG; nonsyndromic

Indexed keywords

ABC TRANSPORTER; DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR MAFB;

ALLELE; ARTICLE; CHROMOSOME; CLEFT LIP; CLEFT PALATE; COLOMBIA; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HISPANIC; HONDURAS; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSYNDROMIC CLEFT LIP; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; COLOMBIA; CONFIDENCE INTERVALS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HISPANIC AMERICANS; HONDURAS; HUMANS; INCIDENCE; INTERFERON REGULATORY FACTORS; MAFB TRANSCRIPTION FACTOR; MALE; ODDS RATIO; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNITED STATES;

EID: 84865655961     PISSN: 0023852X     EISSN: 15314995     Source Type: Journal    
DOI: 10.1002/lary.23394     Document Type: Article

References (24)

1. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC,. Cleft lip and palate. Lancet 2009; 374: 1773-1785.
2. Dixon MJ, Marazita ML, Beaty TH, Murray JC,. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 2011; 12: 167-178.
3. Wehby G, Cassel CH,. The impact of orofacial clefts on quality of life and healthcare use and costs. Oral Dis 2010; 16: 3-10.
4. Calzolari E, Pierini A, Astolfi G, Bianchi F, Neville AJ, Rivieri F,. Associated anomalies in multi-malformed infants with cleft lip and palate; an epidemiological study of nearly 6 million births in 23 EUROCAT registries Am J Med Genet 2007; 143: 528-537.
5. Marazita ML, Lidral AC, Murray JC, et al. Genome Scan, Fine-Mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered 2009; 68: 151-170.
6. Birnbaum S, Ludwig KU, Reutter H, et al. Key susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 2009; 41: 473-477.
7. Mangold E, Ledwig KU, Birnbaum S, et al. Genome-wide association study identifies two susceptibility loci for non-synromic cleft lip with or without cleft palate. Nat Genet 2010; 42: 24-26.
8. Beaty TH, Murray JC, Marazita ML, et al. A genome-wide association study of cleft lip with or without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 2010; 42: 525-529.
9. Diercks GR, Karnezis TT, Kent DT, et al. The association between IRF6 and non-syndromic cleft lip with or without cleft palate in a Honduran population. Laryngoscope 2009; 119: 1759-1764.
10. Larrabee YC, Birkeland AC, Kent DT, et al. Association of common variants, not rare mutations, in IRF6 with non-syndromic clefts in a Honduran population. Laryngoscope 2011; 121: 1756-1759.
11. Fogh-Anderson P,. Inheritance of Harelip and Cleft Palate. Copenhagen, Denmark: Munksgaard; 1942.
12. Fraser F.C,. Thoughts on the etiology of clefts of the palate and lip. Acta Genet Stat Med 1996; 5: 358-369.
13. Barrett JR, Fry B, Maller J, Daly MJ,. Haploview: analysis and visualization of LD and haplotype maps. Am J Hum Genet 2005; 76: 887-893.
14. Sasieni PD,. From genotypes to genes: doubling the sample size. Biometrics 1997; 53: 1253-1261.
15. Lewis CM,. Genetic association studies: design, analysis, and interpretation. Briefings in Bioinformatics 2002; 3: 146-153.
16. Laird N, Horvath S, Xu X,. Implementing a unified approach to family based tests of association. Genet Epidemiol 2000; 19 (suppl 1): S36-S42.
17. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 2007; 81: 559-575.
18. Jorde LB,. Linkage disequilibrium and the search for complex disease genes. Genome Res 2000; 10: 1435-1444.
19. Ewens WJ, Spielman RS,. The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 1995; 57: 455-464.
20. Moreno LM, Mansilla MA, Bullard SA, et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet 2009; 18: 4879-4896.
21. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR,. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat 2003; 6: 636-644.
22. Yuan Q, Blanton SH, Hecht JT,. Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate. Am J Med Genet 2011; 155: 1469-1471.
23. Zhang, Z, Song Y, Zhao X, Zhang X, Fermin C, Chen Y,. Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis. Development 2002; 129: 4135-4146.
24. Suzuki, S, Marazita ML, Cooper ME, et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet 2009; 84: 406-411.