Duan SJ, Huang N, Zhang BH, Shi JY, He
S, Ma J, Yu QQ, Shi B, Jia ZL. New insights from GWAS
for the cleft palate among han
Chinese population. Med Oral Patol
Oral Cir Bucal. 2017 Mar 1;22
(2):e219-27.
doi:10.4317/medoral.21439
http://dx.doi.org/doi:10.4317/medoral.21439
|
1. Beaty TH, Ruczinski I, Murray
JC, Marazita ML, Munger
RG, Hetmanski JB, et al. Evidence
for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol. 2011;35:469-78. |
|
|
|
|
|
2. Shi M, Wehby GL, Murray JC. Review on genetic
variants and maternal smoking in the etiology of oral clefts and other birth defects. Birth Defects Res C Embryo Today. 2008;84:16-29. |
|
|
|
|
|
3. Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, Harvilles E, et al. Familial risk of oral clefts by morphological
type and severity: population based cohort study of first degree relatives. BMJ. 2008;336:432-4. |
|
|
|
|
|
4. Grosen D, Chevrier C, Skytthe A, Bille C, M¿lsted K, Sivertsen A, et al.
A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases
in Denmark: support for the multifactorial threshold model of inheritance. J Med Genet. 2010;47:162-8. |
|
|
|
|
|
5. Christensen K, Murray JC. What genome-wide association studies can do for medicine. N Engl J Med. 2007;356:1094-7. |
|
|
|
|
|
6 Birnbaum S, Ludwig KU, Reutter
H, Herms S, Steffens M, Rubini M, et al. Key susceptibility
locus for nonsyndromic cleft lip with
or without cleft palate on chromosome 8q24. Nat Genet. 2009;41:473-7. |
|
|
|
|
|
7. Grant SF, Wang K, Zhang H, Glaberson
W, Annaiah K, Kim CE, et al. A genome-wide
association study identifies a locus for nonsyndromic cleft lip with or
without cleft palate on 8q24. J Pediatr. 2009;155:909-13. |
|
|
|
|
|
8. Beaty TH, Murray JC, Marazita
ML, Munger RG, Ruczinski
I, Hetmanski JB, et al. A genome-wide
association study of cleft lip with
and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010;42:525-9. |
|
|
|
|
|
9. Mangold E, Ludwig KU, Birnbaum
S, Baluardo C, Ferrian M,
Herms S, et al. Genome-wide
association study identifies two susceptibility loci for nonsyndromic cleft lip with
or without cleft palate. Nat Genet. 2010;42:24-6. |
|
|
|
|
|
10.
Ludwig KU, Mangold E, Herms
S, Nowak S, Reutter H,
Paul A, et al. Genome-wide meta-analyses
of nonsyndromic cleft lip with or
without cleft palate identify six new risk loci. Nat Genet.
2012;44:968-71. |
|
|
|
|
|
11.
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, et al. Mutations in
IRF6 cause Van der Woude and popliteal
pterygium syndromes. Nat Genet. 2002;32:285-9. |
|
|
|
|
|
12, Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler
MJ, Rubini M, et al. Disruption
of an AP-2alpha binding site in an IRF6 enhancer is associated
with cleft lip. Nat Genet.
2008;40:1341-7. |
|
|
|
|
|
13,
Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, et al. Mutations in
BMP4 are associated with subepithelial, microform, and overt cleft lip.
Am J Hum Genet.
2009;84:406-11. |
|
|
|
|
|
14, Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al.
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-75. |
|
|
|
|
|
15, Schwender H, Taub MA, Beaty TH, Marazita ML, Ruczinski I. Rapid testing of SNPs and gene-environment interactions in case-parent
trio data based on exact analytic parameter estimation. Biometrics. 2012;68:766-73. |
|
|
|
|
|
16, Mansouri A, Stoykova A, Torres
M, Gruss P. Dysgenesis of
cephalic neural crest derivatives in Pax7-/- mutant mice. Development.
1996;122:831-8. |
|
|
|
|
|
17, Beaty TH, Taub MA, Scott AF,
Murray JC, Marazita ML, Schwender
H, et al. Confirming genes influencing
risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet.
2013;132:771-81. |
|
|
|
|
|
18,
Leslie EJ, Taub MA, Liu
H, Steinberg KM, Koboldt
DC, Zhang Q, et al. Identification of functional variants for cleft lip
with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. Am J Hum Genet. 2015;96:397-411. |
|
|
|
|
|
19. Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, et al.
In vivo enhancer analysis
of human conserved non-coding
sequences. Nature.
2006;444:499-502. |
|
|
|
|
|
20. Visel A, Minovitsky S, Dubchak I, Pennacchio LA. VISTA
Enhancer Browser--a database
of tissue-specific human enhancers.
Nucleic acids research. 2007;35:D88-92. |
|
|
|
|
|
21. Visel A, Rubin EM, Pennacchio LA. Genomic views of distant-acting enhancers. Nature.
2009;461:199-205. |
|
|
|
|