IR@PKUHSC  > 北京大学口腔医学院
学科主题口腔医学
Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations
Letra, A.1,2; Bjork, B.3; Cooper, M. E.4,5; Szabo-Rogers, H.6; Deleyiannis, F. W. B.7,8; Field, L. L.9; Czeizel, A. E.10; Ma, L.11; Garlet, G. P.12; Poletta, F. A.13; Mereb, J. C.14; Lopez-Camelo, J. S.15; Castilla, E. E.16; Orioli, I. M.17,18; Wendell, S.4,5; Blanton, S. H.19; Liu, K.6; Hecht, J. T.2; Marazita, M. L.4,5; Vieira, A. R.4,5; Silva, R. M.1,2
关键词Cleft Lip And Palate Genetics Gene Expression Gene-gene Interactions Wnt Pathway Craniofacial Anomalies
刊名JOURNAL OF DENTAL RESEARCH
2012-05-01
DOI10.1177/0022034512440578
91期:5页:473-478
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dentistry, Oral Surgery & Medicine
研究领域[WOS]Dentistry, Oral Surgery & Medicine
关键词[WOS]WNT GENES ; LIP ; PALATE ; CANCER ; RISK ; CRANIOSYNOSTOSIS ; MORPHOGENESIS ; EXPRESSION ; PHENOTYPE ; VARIANTS
英文摘要

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.

语种英语
WOS记录号WOS:000302916300007
项目编号R00DE018413 ; R00DE018954 ; R01DE016148 ; R01DE009886 ; R01DE012472
资助机构NIH
引用统计
被引频次:18[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54395
专题北京大学口腔医学院
作者单位1.Fdn Community Control Hereditary Dis, Budapest, Hungary
2.Beijing Univ, Sch Stomatol, Beijing 100871, Peoples R China
3.Univ Sao Paulo, Dept Biol Sci, Bauru, Brazil
4.Hosp Area El Bolson, ECLAMC, El Bolson, Rio Negro, Argentina
5.Inst Biol, Dept Genet, ECLAMC, Rio De Janeiro, Brazil
6.INAGEMP Inst Nacl Genet Med Populac, Rio De Janeiro, Brazil
7.Univ Miami, Miller Sch Med, Miami, FL 33136 USA
8.Univ Texas Hlth Sci Ctr Houston, Sch Dent, Houston, TX 77030 USA
9.Univ Texas Hlth Sci Ctr Houston, Pediat Res Ctr, Houston, TX 77030 USA
10.Midwestern Univ, Chicago Coll Osteopath Med, Dept Biochem, Downers Grove, IL 60515 USA
11.Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Pittsburgh, PA 15260 USA
12.Univ Pittsburgh, Sch Dent Med, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15260 USA
13.Kings Coll London, Dept Craniofacial Dev, London, England
14.Univ Colorado, Sch Med, Dept Surg, Denver, CO USA
15.Univ Colorado, Sch Med, Dept Otolaryngol, Denver, CO USA
16.Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
17.CEMIC Ctr Med Educ & Clin Res, ECLAMC Latin Amer Collaborat Study Congenital Mal, Buenos Aires, DF, Argentina
18.IMBICE Multidisciplinary Inst Cellular Biol, ECLAMC, La Plata, Buenos Aires, Argentina
19.Fundacao Oswaldo Cruz, Dept Genet, INAGEMP CNPq Natl Inst Populat Med Genet, ECLAMC, Rio De Janeiro, RJ, Brazil
推荐引用方式
GB/T 7714
Letra, A.,Bjork, B.,Cooper, M. E.,et al. Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations[J]. JOURNAL OF DENTAL RESEARCH,2012,91(5):473-478.
APA Letra, A..,Bjork, B..,Cooper, M. E..,Szabo-Rogers, H..,Deleyiannis, F. W. B..,...&Silva, R. M..(2012).Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations.JOURNAL OF DENTAL RESEARCH,91(5),473-478.
MLA Letra, A.,et al."Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations".JOURNAL OF DENTAL RESEARCH 91.5(2012):473-478.
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