AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts.
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts.
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DOI：
10.1002/bdra.20489
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发表时间：
2009-02
影响因子：
--
通讯作者：
Vieira, Alexandre R.
中科院分区：
文献类型：
--
作者：
Letra, Ariadne;Menezes, Renato;Granjeiro, Jose M.;Vieira, Alexandre R.
AXIN 2和CDH 1基因在颅面形态发生中起重要作用。这些基因的突变已在出现结直肠癌和牙齿发育不全、胃癌和唇腭裂（CL/P）的家族中描述。口腔裂与牙齿发育不全有关。我们调查了AXIN 2和CDH 1多态性是否与牙裂或任何相关的牙齿亚表型相关。AXIN 2和CDH 1的标志物基因分型使用Taqman化学在一个样本队列包括500个裂个体和500个无关的对照。腭裂组和对照组之间的比较显示AXIN 2与不完全腭裂（P=0.006）和CDH 1与单侧唇/腭裂（左侧CL/P P=0.03，右侧CL/P=0.04）相关的趋势。牙齿发育不全和对照组的唇裂亚表型比较显示，CDH 1（P=0.008）和AXIN 2（P=0.01）与牙齿发育不全的单侧右侧唇腭裂之间存在边界相关性。我们观察到AXIN 2和CDH 1与CL/P伴或不伴牙齿发育不全的相关性仅为临界结果。然而，这些基因在CL/P和癌症的同时发生，以及在牙齿发育不全和癌症的影响，是相当有趣的，值得进一步调查与其他地理和种族的人群。
AXIN2 and CDH1 genes play important roles during craniofacial morphogenesis. Mutations in these genes have been described in families presenting colorectal cancer and tooth agenesis, and gastric cancer and cleft lip/palate (CL/P). Oral clefts have been associated with tooth agenesis. We investigated if AXIN2 and CDH1 polymorphisms were associated with clefts or with any associated dental subphenotypes. Markers in AXIN2 and CDH1 were genotyped using Taqman chemistry in a sample cohort comprised of 500 cleft individuals and 500 unrelated controls. Comparison between cleft and control groups showed a trend for association for AXIN2 with incomplete cleft palate (P=0.006) and CDH1 with unilateral cleft lip/palate (P=0.03 for left CL/P and P=0.04 for right CL/P). Comparison of cleft subphenotypes with tooth agenesis and controls revealed borderline associations for CDH1 (P=0.008) and AXIN2 (P=0.01) with unilateral right cleft lip/palate with tooth agenesis. We observed only borderline results for the association of AXIN2 and CDH1 with CL/P with and without tooth agenesis. Nevertheless, implication of these genes in the simultaneous occurrence of CL/P and cancer, and in tooth agenesis and cancer, is rather intriguing and warrants further investigations with other geographic and ethnic populations.
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影响因子：
9.8
作者：
Lammi, L;Arte, S;Nieminen, P
通讯作者：
Nieminen, P
DOI：
10.1016/s0889-5406(00)70173-9
发表时间：
2000-06-01
影响因子：
3
作者：
Vastardis, H
通讯作者：
Vastardis, H
影响因子：
7.6
作者：
Vieira, AR;Meira, R;Murray, JC
通讯作者：
Murray, JC
影响因子：
2
作者：
Vieira, Alexandre R.;Modesto, Adriana;Murray, Jeffrey C.
通讯作者：
Murray, Jeffrey C.
影响因子：
158.5
作者：
Zucchero, TM;Cooper, ME;Murray, JC
通讯作者：
Murray, JC