Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis
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DOI：
10.1002/ajmg.a.31620
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发表时间：
2007-03-15
影响因子：
2
通讯作者：
Murray, Jeffrey C.
中科院分区：
文献类型：
--
作者：
Vieira, Alexandre R.;Modesto, Adriana;Murray, Jeffrey C.
表现在综合征中的表型特征给出了导致相同缺陷的孤立形式的因素的线索。我们研究了两个与颅面综合征有关的基因，FGFR1和IRF6，在一组孤立的牙齿发育不全的家庭中。从116个病例/父母三人组中采集颊拭子样本进行DNA分析。先证者至少有一颗发育缺失的牙齿，不包括第三颗磨牙。此外，我们研究了来自俄亥俄州的89个病例和50个对照组，以复制任何积极的发现。采用动力学聚合酶链式反应或TaqMan方法进行基因分型。对市场等位基因进行连锁不平衡分析和传递失真分析。与孤立性口裂相关的IRF6基因变异也与人类牙齿发育不全有关(rs861019，P=0.058；rs17015215-V2741，P=0.0006；rs7802，P=0.004)。IRF6基因突变会导致范德伍德和羊角型翼状胬肉综合征。这些综合征的头面部表型特征包括口裂和门牙和前磨牙的优先牙齿发育不良，以及下嘴唇上的凹陷。此外，FGFR1(P=0.014)和IRF6(P=0.002)市场似乎与优先选择前磨牙发育相关。有统计学意义的数据表明，IRF6不仅与MSX1相互作用(P=0.001)，而且与TGFA相互作用(P=0.03)。(C)2007年Wiley-Liss，Inc.
Phenotypic characteristics expressed in syndromes give clues to the factors involved in the cause of isolated forms of the same defects. We investigated two genes responsible for craniofacial syndromes, FGFR1 and IRF6, in a collection of families with isolated tooth agenesis. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. in addition, we studied 89 cases and 50 controls from Ohio to replicate any positive findings. Genotyping was performed by kinetic polymerase chain-reaction or TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the market alleles were performed. The same variants in the IRF6 gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019, P= 0.058; rs17015215-V2741, P=0.0006; rs7802, P=0.004). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. The craniofacial phenotypic characteristics of these syndromes include oral clefts and preferential tooth agenesis of incisors and premolars, besides pits on the lower lips. Also it appears that preferential premolar agenesis is associated with FGFR1 (P=0.014) and IRF6 (P=0.002) markets. There were statistically significant data suggesting that IRF6 interacts not only with MSX1 (P = 0.001), but also with TGFA (P = 0.03). (c) 2007 Wiley-Liss, Inc.