Studies with Wnt genes and nonsyndromic cleft lip and palate.
Studies with Wnt genes and nonsyndromic cleft lip and palate.
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DOI：
10.1002/bdra.20720
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发表时间：
2010-11
影响因子：
--
通讯作者：
Vieira, Alexandre R.
中科院分区：
文献类型：
--
作者：
Menezes, Renato;Letra, Ariadne;Kim, Ana H.;Kuechler, Erika C.;Day, Alicia;Tannure, Patricia N.;da Motta, Luise Gomes;Paiva, Katiucia B. S.;Granjeiro, Jose M.;Vieira, Alexandre R.
唇裂和/或腭裂(唇裂/腭裂)以其复杂的病因而闻名。WNT途径调控包括颅面发育在内的多种发育过程，并可能在唇腭裂和其他颅面发育缺陷中发挥作用，如牙齿发育不全。WNT基因的变异最近被认为与人类的唇腭裂有关。此外，两个WNT基因WNT3和WNT9B位于小鼠的clf1裂隙基因座上。我们研究了位于WNT3A、WNT5A、WNT8A、WNT11、WNT3和WNT9B基因的13个SNPs与500例唇腭裂患者和500名正常对照的唇腭裂亚型的关系。用Taqman法对所选的基因多态进行基因分型。用PLINK 1.06软件检验各多态等位基因频率在患病个体和未患病个体之间的差异。同时进行单倍型分析。在研究人群中，携带WNT3变异等位基因的个体患唇腭裂的风险增加(P=0.0003；OR=1.61 95%C.I：1.2 9-2.0 2)。我们的结果继续支持WNT基因在唇腭裂发病机制中的作用。虽然关于单个WNT基因在颅面发育过程中的功能仍有许多需要了解的地方，但更多的研究应该集中在确定这些基因中潜在的功能变异是导致人类分裂的因素。
Clefts of the lip and/or palate (cleft lip/palate) are notable for their complex etiology. The WNT pathway regulates multiple developmental processes including craniofacial development and may play a role in cleft lip/palate and other defects of craniofacial development such as tooth agenesis. Variations in WNT genes have been recently associated with cleft lip/palate in humans. In addition, two WNT genes, Wnt3 and Wnt9B, are located in the clf1 cleft locus in mice. We investigated 13 SNPs located in WNT3A, WNT5A, WNT8A, WNT11, WNT3 and WNT9B genes, for association with cleft lip/palate subphenotypes in 500 cleft cases and 500 unrelated controls. Genotyping of selected polymorphisms was carried out using Taqman assays. PLINK 1.06 software was used to test for differences in allele frequencies of each polymorphism between affected and unaffected individuals. Haplotype analysis was also performed. Individuals carrying variant alleles in WNT3 presented an increased risk for cleft lip/palate (P=0.0003; OR=1.61 95% C.I: 1.29 -2.02) in the population studied. Our results continue to support a role for WNT genes in the pathogenesis of cleft lip/palate. Although much remains to be learned about the function of individual WNT genes during craniofacial development, additional studies should focus in the identification of potentially functional variants in these genes as contributors to human clefting.
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影响因子：
11.8
作者：
Carroll, TJ;Park, JS;McMahon, AP
通讯作者：
McMahon, AP
DOI：
10.1002/bdra.20302
发表时间：
2006-08-01
影响因子：
--
作者：
Juriloff, Diana M.;Harris, Muriel J.;Lidral, Andrew C.
通讯作者：
Lidral, Andrew C.
影响因子：
9.8
作者：
Niemann, S;Zhao, CF;Müller, U
通讯作者：
Müller, U
影响因子：
2.5
作者：
Lan, Yu;Ryan, Rosemary C.;Jiang, Rulang
通讯作者：
Jiang, Rulang
影响因子：
2.5
作者：
Silva Paiva, Katiucia Batista;Silva-Valenzuela, Maria das Gracas;Nunes, Fabio Daumas
通讯作者：
Nunes, Fabio Daumas