title: Association of AXIN2 with non-syndromic oral clefts in multiple populations.
abstract: We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts.
authors.affiliation: School of Dentistry, University of Texas Health Science Center at Houston, DBB-202, 6516 MD Anderson Blvd., Houston, TX 77030-3402, USA.
authors.forename: A
authors.initials: A
authors.lastname: Letra
authors.forename: B
authors.initials: B
authors.lastname: Bjork
authors.forename: M E
authors.initials: ME
authors.lastname: Cooper
authors.forename: H
authors.initials: H
authors.lastname: Szabo-Rogers
authors.forename: F W B
authors.initials: FW
authors.lastname: Deleyiannis
authors.forename: L L
authors.initials: LL
authors.lastname: Field
authors.forename: A E
authors.initials: AE
authors.lastname: Czeizel
authors.forename: L
authors.initials: L
authors.lastname: Ma
authors.forename: G P
authors.initials: GP
authors.lastname: Garlet
authors.forename: F A
authors.initials: FA
authors.lastname: Poletta
authors.forename: J C
authors.initials: JC
authors.lastname: Mereb
authors.forename: J S
authors.initials: JS
authors.lastname: Lopez-Camelo
authors.forename: E E
authors.initials: EE
authors.lastname: Castilla
authors.forename: I M
authors.initials: IM
authors.lastname: Orioli
authors.forename: S
authors.initials: S
authors.lastname: Wendell
authors.forename: S H
authors.initials: SH
authors.lastname: Blanton
authors.forename: K
authors.initials: K
authors.lastname: Liu
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
authors.forename: M L
authors.initials: ML
authors.lastname: Marazita
authors.forename: A R
authors.initials: AR
authors.lastname: Vieira
authors.forename: R M
authors.initials: RM
authors.lastname: Silva
mesh_terms: D000818:Animals; D044466:Asian People / Q000235:genetics; D060466:Axin Protein / Q000096:biosynthesis / Q000235:genetics*; D002681:China; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004843:Epistasis, Genetic; D005060:Europe; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D006801:Humans; D007194:India; D050835:Interferon Regulatory Factors / Q000096:biosynthesis / Q000235:genetics; D007843:Latin America; D015810:Linkage Disequilibrium; D051379:Mice; D021362:Palate, Hard / Q000196:embryology; D020641:Polymorphism, Single Nucleotide; D012463:Saliva / Q000737:chemistry; D014421:Turkey; D014481:United States; D044465:White People / Q000235:genetics
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein; C111729:Axin2 protein, mouse; C109803:IRF6 protein, human; C528250:IRF6 protein, mouse; D050835:Interferon Regulatory Factors