Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 100, Issue 1, 2014, Pages 36-42

  de Aquino, Sibele Nascimento ^a   Messetti, Ana Camila ^a   Hoshi, Ryuchi ^b   Borges, Andréa ^b   Viena, Camila Sane ^b   Reis, Sílvia R A ^b   Oliveira Swerts, Mário Sérgio ^c   Graner, Edgard ^a   Martelli Júnior, Hercílio ^c,d   Coletta, Ricardo D ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b ESCOLA BAHIANA DE MEDICINA E SAÚDE PÚBLICA   (Brazil)

^c University of José Rosário Vellano   (Brazil)

^d STATE UNIVERSITY OF MONTES CLAROS   (Brazil)

Author keywords

15q22.2; 17q22; 1p36; Nonsyndromic cleft lip with or without palate; Polymorphism

Indexed keywords

ALLELE; ARTICLE; BRAZIL; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

15Q22.2; 17Q22; 1P36; NONSYNDROMIC CLEFT LIP WITH OR WITHOUT PALATE; POLYMORPHISM;

AFRICAN CONTINENTAL ANCESTRY GROUP; BRAZIL; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 17; CLEFT LIP; CLEFT PALATE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; INHERITANCE PATTERNS; MUTAGENESIS, INSERTIONAL; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 84892860770     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23204     Document Type: Article

References (29)

1. Bagordakis E, Paranaiba LMR, Brito LA, et al. 2013. Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population. Am J Med Genet A 161:1177-1180.
2. Bastos-Rodrigues L, Pimenta JR, Pena SD. 2006. The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann Hum Genet 70:658-665.
3. Beaty TH, Murray JC, Marazita ML, et al. 2010. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42:525-529.
4. Beaty TH, Taub MA, Scott AF, et al. 2013. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet 132:771-781.
5. Birnbaum S, Ludwig KU, Reutter H, et al. 2009. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41:473-477.
6. Brito LA, Cruz LA, Rocha KM, et al. 2011. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. Am J Med Genet A 155:1581-1587.
7. Brito LA, Paranaiba LMR, Bassi CFS, et al. 2012. Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil. Birth Defects Res A Clin Mol Teratol 94:464-468.
8. Calzolari E, Milan M, Cavazzuti GB, et al. 1988. Epidemiological and genetic study of 200 cases of oral cleft in the Emilia Romagna region of northern Italy. Teratology 38:559-564.
9. Dixon MJ, Marazita ML, Beaty TH, et al. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167-178.
10. Falush D, Stephens M, Pritchard JK. 2007. Inference of population structure using multilocus genotype data: dominant markers and null alleles. Mol Ecol Notes 7:574-578.
11. Grant SF, Wang K, Zhang H, et al. 2009. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155:909-913.
12. He F, Xiong W, Wang Y, et al. 2010. Modulation of BMP signaling by Noggin is required for the maintenance of palatal epithelial integrity during palatogenesis. Dev Biol 347:109-121.
13. Hu DN, Li JH, Chen HY, et al. 1982. Genetics of cleft lip and cleft palate in China. Am J Hum Genet 34:999-1002.
14. Krause C, Guzman A, Knaus P. 2011. Noggin. Int J Biochem Cell Biol 43:478-481.
15. Lennon CJ, Birkeland AC, Nunez JA, et al. 2012. Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope 122:2082-2087.
16. Ludwig KU, Mangold E, Herms S, et al. 2012. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet 44:968-971.
17. Mangold E, Ludwig KU, Birnbaum S, et al. 2010. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42:24-26.
18. Marazita ML. 2012. The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet 13:263-283.
19. Mostowska A, Hozyasz KK, Wojcicka K, et al. 2012. Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the Polish population. Birth Defects Res A Clin Mol Teratol 94:42-46.
20. Nikopensius T, Birnbaum S, Ludwig KU, et al. 2010 Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. Eur J Oral Sci 118:317-319.
21. Pan Y, Ma J, Zhang W, et al. 2011. Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population. Oral Dis 17:304-308.
22. Pan Y, Han Y, Zhang H, et al. 2013. Association and cumulative effects of GWAS-identified genetic variants for nonsyndromic orofacial clefts in a Chinese population. Environ Mol Mutagen 54:261-267.
23. Paranaíba LM, Bufalino A, Martelli-Júnior H, et al. 2010. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. Oral Dis 16:193-197.
24. Pearson TA, Manolio TA. 2008. How to interpret a genome-wide association study. JAMA 299:1335-1344.
25. Pena SD, Di Pietro G, Fuchshuber-Moraes M, et al. 2011. The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected. PLoS One 6:e17063.
26. Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945-959.
27. Rojas-Martinez A, Reutter H, Chacon-Camacho O, et al. 2010. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Res A Clin Mol Teratol 88:535-537.
28. Sull JW, Liang KY, Hetmanski JB, et al. 2009. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. Eur J Hum Genet 17:831-839.
29. Weatherley-White RC, Ben S, Jin Y, et al. 2011. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort. Am J Med Genet A 155A:2422-2425.