Association of WNT9B Gene Polymorphisms With Nonsyndromic Cleft Lip With or Without Cleft Palate in Brazilian Nuclear Families.
Association of WNT9B Gene Polymorphisms With Nonsyndromic Cleft Lip With or Without Cleft Palate in Brazilian Nuclear Families.
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DOI：
10.1597/13-146
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发表时间：
2015-01
期刊：
影响因子：
--
通讯作者：
Letra A
中科院分区：
文献类型：
--
作者：
Fontoura C;Silva RM;Granjeiro JM;Letra A
伴有或不伴有腭裂的非综合征性唇裂（NSCL/P）是人类常见的颅面部异常，其病因复杂。 WNT 通路基因在颅面发育过程中发挥重要作用，并且 WNT 基因与 NSCL/P 的关联已在不同人群中得到证实。本研究的目的是评估巴西人群中 WNT3 和 WNT9B 基因多态性与 CL/P 之间的关联。对由受影响个体及其未受影响的父母组成的 70 个核心家庭进行了临床检查，并收集唾液样本进行分子分析。使用 TaqMan 化学方法在实时 PCR 中研究了 5 个单核苷酸多态性 (SNP)，其中包括 WNT3 基因中的 3 个和 WNT9B 中的 2 个多态性。基于家族的关联测试（FBAT）和传递不平衡测试（TDT）用于验证每个标记等位基因与 NSCL/P 之间的关联。显着性水平确定为 P ≤ 0.05。 NSCL/P 与 WNT9B 基因中的 SNP rs1530364 呈正相关。单倍型分析显示 WNT3 和 WNT9B 单倍型的关联。在 NSCL/P 和 WNT3 中的单个 SNP 之间未检测到关联。我们的研究进一步支持 WNT9B 作为巴西 NSCL/P 家族的裂隙易感基因。尽管仍需要进一步的研究来揭示 WNT 基因导致 NSCL/P 的确切机制，但这些基因的等位基因多态性及其相互作用可能部分解释个体对 NSCL/P 易感性的差异。
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial anomaly in humans of complex etiology. WNT pathway genes have important roles during craniofacial development and the association of WNT genes with NSCL/P has been demonstrated in different populations. The aim of this study was to evaluate the association between polymorphisms in WNT3 and WNT9B genes and CL/P in a Brazilian population. Seventy nuclear families composed by an affected individual and their unaffected parents were examined clinically and saliva samples were collected for molecular analyses. Five single nucleotide polymorphisms (SNPs) including three in the WNT3 gene and two polymorphisms in WNT9B were investigated in real-time PCR using TaqMan chemistry. The Family-Based Association Test (FBAT) and the transmission disequilibrium test (TDT) were used to verify the association between each marker allele and NSCL/P. The level of significance was established at P ≤ 0.05. A positive association was detected between NSCL/P and SNP rs1530364 in WNT9B gene. Haplotype analysis showed association of WNT3 and WNT9B haplotypes. No association was detected between NSCL/P and individual SNPs in WNT3. Our study further supports the involvement of WNT9B as a cleft susceptibility gene in Brazilian NSCL/P families. Although additional studies are still necessary to unveil the exact mechanism by which WNT genes would contribute to NSCL/P, allelic polymorphisms in these genes and their interactions may partly explain the variance of individual susceptibility to NSCL/P.
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影响因子：
2.7
作者：
Reid BS;Yang H;Melvin VS;Taketo MM;Williams T
通讯作者：
Williams T
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：
11.8
作者：
Carroll, TJ;Park, JS;McMahon, AP
通讯作者：
McMahon, AP
影响因子：
5.3
作者：
Beaty, T. H.;Taub, M. A.;Scott, A. F.;Murray, J. C.;Marazita, M. L.;Schwender, H.;Parker, M. M.;Hetmanski, J. B.;Balakrishnan, P.;Mansilla, M. A.;Mangold, E.;Ludwig, K. U.;Noethen, M. M.;Rubini, M.;Elcioglu, N.;Ruczinski, I.
通讯作者：
Ruczinski, I.
影响因子：
5.2
作者：
Horvath, S;Xu, X;Laird, NM
通讯作者：
Laird, NM