Association of single-nucleotide polymorphisms in the IRF6 gene with non-syndromic cleft lip with or without cleft palate in the Xinjiang Uyghur population

British Journal of Oral and Maxillofacial Surgery

Volumn 53, Issue 3, 2015, Pages 268-274

  Mijiti, Ainiwaer ^a,b   Ling, Wang ^a,b   Guli, ^a,b   Moming, Adili ^a,b  

^a XINJIANG MEDICAL UNIVERSITY   (China)

^b Stomatological Research Institute of Xinjiang Uyghur Autonomous Region   (China)

Author keywords

Case control study; IRF6 gene; Linkage disequilibrium; Orofacial clefts

Indexed keywords

ADOLESCENT; ARTICLE; CHINESE; CLEFT LIP PALATE; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; HAPLOTYPE; HUMAN; INTERFERON REGULATORY FACTOR 6 GENE; MAJOR CLINICAL STUDY; META ANALYSIS; NEXT GENERATION SEQUENCING; NON SYNDROMIC CLEFT LIP PALATE; SINGLE NUCLEOTIDE POLYMORPHISM; 5' UNTRANSLATED REGION; CASE CONTROL STUDY; CLEFT LIP; CLEFT PALATE; COMPARATIVE STUDY; DNA FLANKING REGION; DOMINANT GENE; EXON; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INFANT; INTRON; MISSENSE MUTATION; RECESSIVE GENE;

5' UNTRANSLATED REGION; ADENINE; CYTOSINE; GUANINE; INTERFERON REGULATORY FACTOR; IRF6 PROTEIN, HUMAN; ISOLEUCINE; SERINE; VALINE;

5' FLANKING REGION; 5' UNTRANSLATED REGIONS; ADENINE; CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; CYTOSINE; EXONS; GENE FREQUENCY; GENES, DOMINANT; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GUANINE; HAPLOTYPES; HUMANS; INFANT; INTERFERON REGULATORY FACTORS; INTRONS; ISOLEUCINE; LINKAGE DISEQUILIBRIUM; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; SERINE; VALINE;

EID: 84924527161     PISSN: 02664356     EISSN: 15321940     Source Type: Journal    
DOI: 10.1016/j.bjoms.2014.12.008     Document Type: Article

References (23)

1. T.H. Beaty, I. Ruczinski, and J.C. Murray Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate Genet Epidemiol 35 2011 469 478
2. B. Prahl-Andersen, and Q. Ju Quality improvement of cleft lip and palate treatment Angle Orthod 76 2006 265 268
3. S. Aminpour, and T.T. Tollefson Recent advances in presurgical molding in cleft lip and palate Curr Opin Otolaryngol Head Neck Surg 16 2008 339 346
4. B.J. Costello, S.P. Edwards, and M. Clemens Fetal diagnosis and treatment of craniomaxillofacial anomalies J Oral Maxillofac Surg 66 2008 1985 1995
5. G.L. Wehby, and C.H. Cassell The impact of orofacial clefts on quality of life and healthcare use and costs Oral Dis 16 2010 3 10
6. S. Kondo, B.C. Schutteo, and R.J. Richardson Mutations in IRF6 cause van der Woude and popliteal pterygium syndromes Nat Genet 32 2002 285 289
7. C.R. Ingraham, A. Kinoshita, and S. Kondo Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6) Nat Genet 38 2006 1335 1340
8. X.X. Pei, C.D. Zhen, and Z.W. Hui Serological study on the HLA polymorphism of 8 nationalities in China Acta Anthropol Sin 12 1992 157 165 [in Chinese]
9. http://www.bioinformatics.babraham.ac.uk/projects/fastqc/.
10. M.A. DePristo, E. Banks, and R. Poplin A framework for variation discovery and genotyping using next-generation DNA sequencing data Nat Genet 43 2011 491 498
11. D.C. Koboldt, K. Chen, and T. Wylie VarScan: variant detection in massively parallel sequencing of individual and pooled samples Bioinformatics 25 2009 2283 2285
12. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 38 2010 164
13. http://www.broad.mit.edu/mpg/haploview/.
14. http://www.dynacom.co.jp.
15. R.J. Richardson, J. Dixon, and R. Jiang Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence Hum Mol Genet 18 2009 2632 2642
16. T.M. Zucchero, M.E. Cooper, and B.S. Maher Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate N Engl J Med 351 2004 769 780
17. J.W. Park, I. McIntosh, and J.B. Hetmanski Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations Genet Med 9 2007 219 227
18. F. Rahimov, M.L. Marazita, and A. Visel Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip Nat Genet 40 2008 1341 1347
19. Y. Pan, J. Ma, and W. Zhang IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population Am J Med Genet A 152 2010 A 2505 2511
20. Y. Huang, J. Wu, and J. Ma Association between IRF6 SNPs and oral clefts in West China J Dent Res 88 2009 715 718
21. A. Jugessur, F. Rahimov, and R.T. Lie Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population based case-control study of facial clefts in Norway Genet Epidemiol 32 2008 413 424
22. W. Tang, X. Du, and F. Feng Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population Cleft Palate Craniofac J 46 2009 89 92
23. D. Fallin, and N.J. Schork Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data Am J Hum Genet 67 2000 947 959