Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

Biochemical and Biophysical Research Communications

Volumn 410, Issue 4, 2011, Pages 732-736

  Shi, Jinna ^a   Song, Tao ^a   Jiao, Xiaohui ^a   Qin, Chunlin ^b   Zhou, Jin ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b BAYLOR COLLEGE OF DENTISTRY   (United States)

Author keywords

Association study; Candidate gene; IRF6; NSCLP; SNP; TFAP2A

Indexed keywords

INTERFERON REGULATORY FACTOR 6; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR AP 2A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; CLEFT LIP; CLEFT PALATE; HUMANS; INTERFERON REGULATORY FACTORS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTOR AP-2; YOUNG ADULT;

EID: 79960332698     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.06.006     Document Type: Article

References (29)

1. Gorlin R.J., Cohen J.M.M., Levin L.S. Syndromes of the head and neck 1990, Oxford University Press, New York, pp. 693-714.
2. Hashmi S.S., Waller D.K., Langlois P., et al. Prevalence of non-syndromic oral clefts in Texas: 1995-1999. Am. J. Med. Genet. A 2005, 134:368-372.
3. Wyszynski D.F., Beaty T.H., Maestri N.E. Genetics of non-syndromic oral clefts revised. Cleft Palate Craniofac. J. 1996, 34:406-417.
4. Lidral A.C., Moreno L.M. Progress toward discerning the genetics of cleft lip. Curr. Opin. Pediatr. 2005, 17:731-739.
5. Kondo S., Schutte B.C., Richardson R.J., et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat. Genet. 2002, 32:285-289.
6. Zucchero T.M., Cooper M.E., Maher B.S., et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N. Engl. J. Med. 2004, 351:769-780.
7. Scapoli L., Palmieri A., Martinelli M., et al. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and non-syndromic cleft lip with or without cleft palate, in an Italian population. Am. J. Hum. Genet. 2005, 76:180-183.
8. Rahimov F., Marazita M.L., Visel A., et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat. Genet. 2008, 40:1341-1347.
9. Prescott N.J., Lees M.M., Winter R.M., et al. Identification of susceptibility loci for non-syndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum. Genet. 2000, 106:345-350.
10. Schultz R.E., Cooper M.E., Daack-Hirsch S., et al. Targeted scan of fifteen regions for non-syndromic cleft lip and palate in Fillipino families. Am. J. Med. Genet. A 2004, 125:17-22.
11. Moreno L.M., Arcos-Burgos M., Marazita M.L., et al. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antiquia-Colombia and Ohio. Am. J. Med. Genet. A 2004, 125:135-144.
12. Milunsky J.M., Maher T.A., Zhao G., et al. TFAP2A mutations result in Branchio-Oculo-Facial syndrome. Am. J. Hum. Genet. 2008, 82:1171-1177.
13. Juriloff D.M., Harris M.J. Mouse genetic models of cleft lip with or without cleft palate. Birth Defects Res. A Clin. Mol. Teratol. 2008, 82:63-77.
14. Mitchell L.E., Beaty T.H., Lidral A.C., et al. Guidelines for the design and analysis of studies on non-syndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics. Cleft Palate Craniofac. J. 2002, 39:93-100.
15. Harville E.W., Wilcox A.J., Lie R.T., et al. Cleft lip and palate versus cleft lip only: are they distinct defects?. Am. J. Epidemiol. 2005, 162:448-453.
16. Paranai{dotless}́ba L.M.R., Bufalino A., Martelli-Júnior H., et al. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. Oral Dis. 2010, 16:193-197.
17. Huang Y., Wu J., Ma J., et al. Association between IRF6 SNPs and oral clefts in west China. J. Dent. Res. 2009, 88:715-718.
18. Sole X., Guino E., Valls J., et al. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006, 22:1928-1929.
19. Taniguchi T., Ogasawara K., Takaoka A., et al. IRF family of transcription factors as regulators of host defense. Annu Rev. Immunol. 2001, 19:623-655.
20. Jugessur A., Rahimov F., Lie R.T., et al. 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. 2008, 32:413-424.
21. Wu G.G., Deng Z.H., Gao S.Q., et al. Study of HLA polymorphism in the Chinese Han bone marrow registry donors. Chin. J. Hematol. 2004, 25:474-478.
22. Schorle H., Meier P., Buchert M., et al. Transcription factor AP-2 essential for cranialclosure and craniofacial development. Nature 1996, 381:235-238.
23. Zhang J., Hagopian-Donaldson S., Serbedzija G., et al. Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature 1996, 381:238-241.
24. Ahituv N., Erven A., Fuchs H., et al. An ENU-induced mutation in AP-2a leads to middle ear and ocular defects in Doarad mice. Mamm. Genome 2004, 15:424-432.
25. Nelson D.K., Williams T. Frontonasal processspecific disruption of AP-2a results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects. Dev. Biol. 2004, 267:72-92.
26. Morris-Kay G.M. Craniofacial defects in AP-2 null mutant mice. Bioessays 1996, 18:785-788.
27. Nottoli T., Hagopian-Donaldson S., Zhang J., et al. Ap-2 null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. Proc. Natl. Acad. Sci. USA 1998, 95:13714-13719.
28. West-Mays J.A., Zhang J., Nottoli T., et al. AP-2a transcription factor is required for early morphogenesis of the lens vesicle. Dev. Biol. 1999, 206:46-62.
29. Feng W., Huang J., Zhang J., et al. Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme. Mol. Cell Biol. 2008, 28:315-325.